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Pallister-Killian Syndrome-- PKS

the literature, 1993-1999

A literature search at Indiana University, Bloomington, Indiana
The following MEDLINE items were compiled by SilverPlatter and are presented with their generous co-operation and permission. (See SilverPlatter's Worldwide Library for bibliographic search information.)

NORD, The National Organization of Rare Diseases, has the following to say about PKS:

Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present.

What follows are literature citations, plus abstracts, of scientific articles on the subject.

Record 1 of 29 in MEDLINE EXPRESS (R) 1999/01-1999/02

TITLE: Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling.

AUTHOR(S): Lalatta-F; Salmona-S; Fogliani-R; Rizzuti-T; Nicolini-U

ADDRESS OF AUTHOR: Cytogenetics Laboratory, ICP, Milano, Italy.

SOURCE (BIBLIOGRAPHIC CITATION): Prenat-Diagn. 1998 Aug; 18(8): 834-7

INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851

PUBLICATION YEAR: 1998

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: Two women without a specific risk had fetuses with multiple malformations diagnosed by ultrasound; extensive biochemical investigations on fetal blood revealed clues which would have allowed the correct diagnosis of a genetic condition: Pallister-Killian syndrome in one with increased fetal LDH, and Smith-Lemli-Opitz type II syndrome in the other with low fetal cholesterolaemia. When compared with chorionic villus sampling and amniocentesis, rapid karyotyping in women with multiple fetal malformations by fetal blood sampling allows the collection of additional data which may lead to the diagnosis of specific genetic syndromes.

MINOR MESH HEADINGS: Abnormalities,-Multiple-blood; Abnormalities,-Multiple-ultrasonography; Adult-; Amniocentesis-; Cholesterol-blood; Chorionic-Villi-Sampling; Chromosome-Aberrations; Chromosomes,-Human,-Pair-12; Karyotyping-; Lactate-Dehydrogenase-blood; Pregnancy-; Smith-Lemli-Opitz-Syndrome-diagnosis; Syndrome-; Ultrasonography,-Prenatal

MAJOR MeSH HEADINGS: *Fetal-Blood-chemistry; *Hereditary-Diseases-diagnosis; *Prenatal-Diagnosis

CHECKTAGS: Case-Report; Comparative-Study; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: EC 1.1.1.27; 57-88-5

NAME OF SUBSTANCE: Lactate-Dehydrogenase; Cholesterol

MEDLINE ACCESSION NUMBER: 98414998

UPDATE CODE: 9901

Record 2 of 29 in MEDLINE EXPRESS (R) 1996-1998

TITLE: Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling.

AUTHOR(S): Lalatta-F; Salmona-S; Fogliani-R; Rizzuti-T; Nicolini-U

ADDRESS OF AUTHOR: Cytogenetics Laboratory, ICP, Milano, Italy.

SOURCE (BIBLIOGRAPHIC CITATION): Prenat-Diagn. 1998 Aug; 18(8): 834-7

INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851

PUBLICATION YEAR: 1998

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

MAJOR MeSH HEADINGS: *Fetal-Blood-chemistry; *Hereditary-Diseases-diagnosis; *Prenatal-Diagnosis

CHECKTAGS: Case-Report; Comparative-Study; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: EC 1.1.1.27; 57-88-5

NAME OF SUBSTANCE: Lactate-Dehydrogenase; Cholesterol

MEDLINE ACCESSION NUMBER: 1998414998

UPDATE CODE: 199901

Record 3 of 29 in MEDLINE EXPRESS (R) 1996-1998

TITLE: A case of mosaic tetrasomy 12p (Pallister-Killian Syndrome) diagnosed prenatally: comparison of chromosome analyses of various cells obtained from the patient.

AUTHOR(S): Takakuwa-K; Hataya-I; Arakawa-M; Tamura-M; Sekizuka-N; Tanaka-K

ADDRESS OF AUTHOR: Department of Obstetrics and Gynecology, Niigata University School of Medicine, Japan.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Perinatol. 1997 Nov; 14(10): 641-3

INTERNATIONAL STANDARD SERIAL NUMBER: 0735-1631

PUBLICATION YEAR: 1997

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: A pregnant woman was referred to our hospital at the 29th week of gestation with the symptom of polyhydramnios; diaphragmatic herniation of the fetus was suspected. Fetal chromosome anlaysis was performed using fibroblasts obtained by aminocentesis, and mosaicism of 46,XX and isochromosome of 12p were diagnosed. Out of 50 karyotyped cells, 19 (38.0%) showed the tetrasomy of the isochromosome of 12p. The mother vaginally delivered a baby girl who died just after delivery. The analysis of cord blood lymphocytes revealed only 0.5% incidence of tetrasomy of 12p. The incidence of tetrasomy was 8.0% for the placental chorionic villi, 48.0% for the fibroblasts obtained from the umbilical cord, and 70.0% for the skin fibroblasts. Thus, the diagnosis of Pallister-Killian Syndrome (PKS) is confirmed by mosaicism of i(12p), that is, the affected patients exhibit tissue-specific mosaicism, with the abnormal karyotype expression in limited lymphocytes, but marked in fibroblasts.

MINOR MESH HEADINGS: Adult-; Karyotyping-; Pregnancy-; Syndrome-

MAJOR MeSH HEADINGS: *Chromosome-Abnormalities-diagnosis; *Chromosomes,-Human,-Pair-12-genetics; *Fetal-Diseases-diagnosis; *Fetal-Diseases-genetics; *Genetic-Screening; *Mosaicism-genetics; *Prenatal-Diagnosis

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1998266289

UPDATE CODE: 199809

Record 4 of 29 in MEDLINE EXPRESS (R) 1996-1998

TITLE: Clinical variability of tetrasomy 12p.

AUTHOR(S): Schaefer-GB; Jochar-A; Muneer-R; Sanger-WG

ADDRESS OF AUTHOR: University of Nebraska Medical Center, Meyer Rehabilitation Institute, Omaha 68198-5430, USA. gbschaef@unmc.edu

SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1997 Feb; 51(2): 102-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163

PUBLICATION YEAR: 1997

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: DENMARK

ABSTRACT: We describe five patients with tetrasomy 12p (one previously reported). These patients exhibit a very wide range of phenotypic features from that of classic Pallister-Killian syndrome to only mild learning disabilities with pigmentary skin changes. As such, these cases highlight the fact that tetrasomy 12p [i(12p)] and Pallister-Killian syndrome are not synonymous, although this combination of genotype and phenotype is often seen. This information is especially important in prenatally ascertained i(12p). The full spectrum of phenotypic possibilities associated with this chromosome aneuploidy should be discussed in prenatal counseling.

MINOR MESH HEADINGS: Adult-; Child-; Child,-Preschool; Cleft-Palate-genetics; Face-abnormalities; Fibroblasts-; Hearing-Disorders-genetics; Infant-; Infant,-Newborn; Learning-Disorders-genetics; Mosaicism-; Phenotype-; Pigmentation-Disorders-genetics; Pregnancy-; Prenatal-Diagnosis; Skin-pathology; Skin-physiology; Skin-Physiology; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Aneuploidy-; *Chromosomes,-Human,-Pair-12; *Developmental-Disabilities-genetics

CHECKTAGS: Case-Report; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1997266203

UPDATE CODE: 199708

Record 5 of 29 in MEDLINE EXPRESS (R) 1996-1998

TITLE: Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection.

AUTHOR(S): Schubert-R; Viersbach-R; Eggermann-T; Hansmann-M; Schwanitz-G

ADDRESS OF AUTHOR: Institute of Human Genetics, University of Bonn, Germany.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 Oct 3; 72(1): 106-10

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1997

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Tissue-specific mosaic distribution of an additional isochromosome 12p is the characteristic chromosomal aberration in Pallister-Killian syndrome. Often it is confined to fibroblasts, whereas lymphocytes show a normal karyotype. Two cases are reported in which the distribution of the additional i(12p) was analysed in various tissues. The isochromosomes were characterised by conventional banding technics and fluorescence in situ hybridization (FISH). In the first case, diagnosed prenatally, 4 different tissues were analysed. A direct preparation of chorionic villi (21 gestational weeks) showed an extra marker chromosome in 19% and two additional copies in 3% of the examined cells. In two cultures of amniocytes (17 and 21 weeks), the i(12p) was observed in 23% and 12%, respectively. It was absent in cultured lymphocytes of fetal blood (21 weeks). The fibroblast long-term culture of umbilical cord showed the i(12p) in 100% of metaphases. In the second case of a term infant the i(12p) was diagnosed in cultured lymphocytes (4%) and fibroblasts (93%). Secondary loss of the isochromosome was evaluated by in vitro selection in case 2 analysing metaphases and interphases of fibroblasts in the 1st, 4th and 5th subculture using FISH. The proportion of cells with i(12p) decreased from 93% to 40% and to 28%, respectively. DNA analysis in case 1 showed a maternal meiotic origin of the i(12p). The prenatally detected clinical findings in both cases showed characteristic abnormalities of the Pallister-Killian syndrome.

MINOR MESH HEADINGS: Infant,-Newborn; Karyotyping-; Metaphase-genetics; Organ-Specificity; Polymerase-Chain-Reaction; Pregnancy-; Prenatal-Diagnosis; Syndrome-

MAJOR MeSH HEADINGS: *Chromosome-Aberrations; *Chromosomes,-Human,-Pair-12-genetics; *In-Situ-Hybridization,-Fluorescence-methods; *Isochromosomes-genetics; *Mosaicism-genetics

CHECKTAGS: Case-Report; Female; Human; Support,-Non-U.S.-Gov't

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1997439529

UPDATE CODE: 199712

Record 6 of 29 in MEDLINE EXPRESS (R) 1996-1998

TITLE: The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome.

AUTHOR(S): Mowery-Rushton-PA; Stadler-MP; Kochmar-SJ; McPherson-E; Surti-U; Hogge-WA

ADDRESS OF AUTHOR: Magee Womens Research Institute, Pittsburgh, Pennsylvania, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Prenat-Diagn. 1997 Mar; 17(3): 255-65

INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851

PUBLICATION YEAR: 1997

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was used to enumerate the number of interphase cells containing the isochromosome. The results of these studies illustrate the importance of the use of interphase FISH to detect the presence of the i(12p) in uncultured, non-dividing cells. A review of the literature identified 23 additional cases of Pallister-Killian syndrome diagnosed prenatally. Approximately 50 per cent of these cases were associated with the presence of a congenital diaphragmatic hernia. We suggest that a perinatal-lethal form of Pallister-Killian syndrome is underdiagnosed and recommend that all cases of prenatally detected diaphragmatic hernia be tested for Pallister-Killian syndrome using interphase FISH on uncultured amniocytes.

MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Adult-; Chorionic-Villi-Sampling; Chromosome-Abnormalities-genetics; Interphase-genetics; Isochromosomes-genetics; Pregnancy-; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Abnormalities,-Multiple-embryology; *Chromosome-Abnormalities-diagnosis; *Chromosome-Abnormalities-embryology; *Chromosomes,-Human,-Pair-12; *In-Situ-Hybridization,-Fluorescence; *Isochromosomes-

CHECKTAGS: Case-Report; Comparative-Study; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1997264544

UPDATE CODE: 199709

Record 7 of 29 in MEDLINE EXPRESS (R) 1996-1998

TITLE: Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).

AUTHOR(S): Mathieu-M; Piussan-C; Thepot-F; Gouget-A; Lacombe-D; Pedespan-JM; Serville-F; Fontan-D; Ruffie-M; Nivelon-Chevallier-A; Amblard-F; Chauveau-P; Moirot-H; Chabrolle-JP; Croquette-MF; Teyssier-M; Plauchu-H; Pelissier-MC; Gilgenkrantz-S; Turc-Carel-C; Turleau-C; Prieur-M; Le-Merrer-M; Gonzales-M; Journel-H; et-al

ADDRESS OF AUTHOR: Unite de Genetique Clinique, Hopital Nord, CHRU, Amiens, France.

SOURCE (BIBLIOGRAPHIC CITATION): Ann-Genet. 1997; 40(1): 45-54

INTERNATIONAL STANDARD SERIAL NUMBER: 0003-3995

PUBLICATION YEAR: 1997

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: FRANCE

ABSTRACT: The difficulties in the diagnosis of Pallister-Killian syndrome are illustrated in this study of nineteen fetuses and children. Diagnosis based on clinical appearance alone is often difficult due to the broad spectrum of clinical anomalies not specific to this syndrome. Due to mosaicism, it is altogether necessary to examine several tissues for the presence of tetrasomy 12p, including circulating lymphocytes in which mosaicism can be as low as 1-3%, amniocytes, chorionic cells and skin fibro-blasts in which mosaicism ranges from 6-100%. When highly suspected on ultrasound examination, the diagnosis recommends prenatal cytogenetic studies because survivors are severely mentally retarded. All the cases are sporadic with only a single preliminary report of recurrence. The cytogenetic diagnosis is therefore helpful in order to reassure family members in regard to genetic counseling.

MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Face-abnormalities; Fetal-Diseases-genetics; Hypotrichosis-genetics; Karyotyping-; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-12; *Mental-Retardation-genetics; *Mosaicism-; *Prenatal-Diagnosis

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1997295208

UPDATE CODE: 199708

Record 8 of 29 in MEDLINE EXPRESS (R) 1996-1998

TITLE: Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.

AUTHOR(S): Cormier-Daire-V; Le-Merrer-M; Gigarel-N; Morichon-N; Prieur-M; Lyonnet-S; Vekemans-M; Munnich-A

ADDRESS OF AUTHOR: Unite de Recherches sur les Handicaps Genetiques de l'Enfant, INSERMU.393, Hopital des Enfants Malades, Paris, France.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 Mar 17; 69(2): 166-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1997

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Pallister-Killian syndrome is a rare disorder comprising multiple congenital anomalies, streaks of hypo(hyper)pigmentation, seizures, profound mental retardation, and the presence of an extra metacentric chromosome i(12)(p10), usually limited to skin fibroblasts. The mechanism and parental origin of the extra chromosome i(12)(p10) are unknown. Here, we present a girl with Pallister-Killian syndrome and the i(12)(p10) in 50% of cultured skin fibroblasts. Using microsatellite DNA markers of chromosome 12p, we detected 3 alleles--including 2 different alleles of maternal origin--in cultured skin fibroblasts, suggesting that the tetrasomy 12p is the result of a prezygotic event, with a nondisjunction event during maternal meiosis.

MINOR MESH HEADINGS: Genetic-Markers; Infant-; Microsatellite-Repeats; Pedigree-; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-12; *Isochromosomes-; *Mental-Retardation-genetics; *Skin-Pigmentation-genetics

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0

NAME OF SUBSTANCE: Genetic-Markers

MEDLINE ACCESSION NUMBER: 1997209254

UPDATE CODE: 199707

Record 9 of 29 in MEDLINE EXPRESS (R) 1996-1998

TITLE: Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype.

AUTHOR(S): Bielanska-MM; Khalifa-MM; Duncan-AM

ADDRESS OF AUTHOR: Department of Pathology and Pediatrics, Queen's University, Kingston, Ontario, Canada.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1996 Oct 16; 65(2): 104-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Pallister-Killian syndrome (PKS) is a rare disorder characterized by a specific combination of anomalies, mental retardation and mosaic presence of a supernumerary isochromosome 12p which is tissue-limited. We report an atypical case of PKS with a mild phenotype. Flourescence in situ hybridization (FISH) was used to demonstrate that the supernumerary marker chromosome identified in the patient's fibroblasts was an isochromosome 12p. This study broadens the spectrum of PKS phenotype. It also illustrates the usefulness of fluorescence in situ hybridization in diagnosis of patients with chromosomal abnormalities and mild or atypical clinical findings.

MINOR MESH HEADINGS: Adult-; Centromere-genetics; Child,-Preschool; Chromosome-Aberrations; Developmental-Disabilities-complications; Developmental-Disabilities-genetics; Eyebrows-abnormalities; Face-abnormalities; Fibroblasts-physiology; Hearing-Loss,-Partial-complications; Hypertelorism-complications; Hypertelorism-genetics; Hypopigmentation-complications; In-Situ-Hybridization,-Fluorescence; Infant,-Newborn; Karyotyping-; Lymphocytes-physiology; Phenotype-; Pregnancy-; Syndrome-

MAJOR MeSH HEADINGS: *Chromosome-Abnormalities-genetics; *Chromosomes,-Human,-Pair-12; *Hearing-Loss,-Partial-genetics; *Hypopigmentation-genetics

CHECKTAGS: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1997068276

UPDATE CODE: 199704

Record 10 of 29 in MEDLINE EXPRESS (R) 1996-1998

TITLE: Parental origin and mechanisms of formation of three cases of 12p tetrasomy.

AUTHOR(S): Turleau-C; Simon-Bouy-B; Austruy-E; Grisard-MC; Lemaire-F; Molina-Gomes-D; Siffroi-JP; Boue-J

ADDRESS OF AUTHOR: INSERM U 383, Hopital Necker-Enfants, Malades, Paris, France.

SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1996 Jul; 50(1): 41-6

INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: DENMARK

ABSTRACT: Pallister-Killian syndrome is a clinically recognizable syndrome characterized by tissue-limited mosaicism for an extra 12p isochromosome. Very little is known about the underlying mechanism of this rare rearrangement. Microsatellite markers were studied from three fetuses with Pallister-Killian syndrome and their parents to determine the parent of origin and the cell division yielding the additional isochromosome. In two cases the isochromosome contained the same allele(s) as a normal transmitted chromosome 12, one paternal and one maternal in origin. A third case showed inheritance of two different maternal alleles, indicating that at least one meiotic error was involved in the ultimate formation of the extra isochromosome.

MINOR MESH HEADINGS: Abnormalities,-Multiple-ultrasonography; Adult-; Alleles-; Amniocentesis-; Centromere-ultrastructure; DNA,-Satellite; Fetus-abnormalities; Fetus-physiology; Genetic-Markers; Homozygote-; In-Situ-Hybridization; Karyotyping-; Meiosis-; Mitosis-; Polymerase-Chain-Reaction; Pregnancy-; Prenatal-Diagnosis

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Aneuploidy-; *Chromosomes,-Human,-Pair-12

CHECKTAGS: Case-Report; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0; 0

NAME OF SUBSTANCE: DNA,-Satellite; Genetic-Markers

MEDLINE ACCESSION NUMBER: 1997046464

UPDATE CODE: 199704

Record 11 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Prenatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: a case report of Pallister-Killian syndrome.

AUTHOR(S): Los-FJ; Van-Opstal-D; Schol-MP; Gaillard-JL; Brandenburg-H; Van-Den-Ouweland-AM; in-'t-Veld-PA

ADDRESS OF AUTHOR: Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.

SOURCE (BIBLIOGRAPHIC CITATION): Prenat-Diagn. 1995 Dec; 15(12): 1155-9

INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes p alpha 12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister-Killian syndrome.

MINOR MESH HEADINGS: Adult-; Amniotic-Fluid-cytology; Cells,-Cultured; DNA-analysis; DNA-Probes; Maternal-Age-35-and-over; Polymerase-Chain-Reaction; Pregnancy-; Syndrome-

MAJOR MeSH HEADINGS: *Chromosome-Aberrations; *Chromosomes,-Human,-Pair-12; *In-Situ-Hybridization,-Fluorescence; *Mosaicism-; *Prenatal-Diagnosis; *Trisomy-

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-49-2

NAME OF SUBSTANCE: DNA-Probes; DNA

MEDLINE ACCESSION NUMBER: 1996357496

UPDATE CODE: 199611

Record 12 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples.

AUTHOR(S): Brondum-Nielsen-K; Mikkelsen-M

ADDRESS OF AUTHOR: Department of Medical Genetics, John F. Kennedy Institute, Glostrup, Denmark.

SOURCE (BIBLIOGRAPHIC CITATION): Prenat-Diagn. 1995 Jul; 15(7): 615-9

INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: A cytogenetic survey and follow-up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12,699 prenatal samples, investigated at our institution over a 10-year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origin of the marker chromosomes. Five cases were familial, all derived from acrocentric chromosomes, and all without apparent phenotypic effects in the children. Nine cases represented de novo aberrations. In two cases (one with a marker from chromosome 14 or 22, the other with a ring-like marker derived from chromosome 17), the pregnancies continued and apparently normal babies were delivered at term, but the child with a marker derived from chromosome 17 showed slight psychomotor retardation at 2 years of age. All other pregnancies with de novo markers were terminated. In three cases, significant abnormalities were found at autopsy. One of these had an isochromosome 12p and the phenotype was consistent with Pallister-Killian syndrome. In conclusion, marker chromosome identification, as well as clinical follow-up, is essential for the purpose of improving genetic counselling.

MINOR MESH HEADINGS: Data-Collection; Follow-Up-Studies; Phenotype-; Pregnancy-; Psychomotor-Disorders-diagnosis; Psychomotor-Disorders-etiology; Psychomotor-Disorders-genetics

MAJOR MeSH HEADINGS: *Chromosome-Abnormalities-diagnosis; *Chromosomes,-Human,-Pair-12; *Chromosomes,-Human,-Pair-17; *Genetic-Markers; *In-Situ-Hybridization,-Fluorescence-standards; *Pregnancy-Outcome; *Prenatal-Diagnosis

CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0

NAME OF SUBSTANCE: Genetic-Markers

MEDLINE ACCESSION NUMBER: 1996138872

UPDATE CODE: 199604

Record 13 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Pallister-Killian syndrome detected by fluorescence in situ hybridization [letter]

AUTHOR(S): Bulter-MG; Dev-VG

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1995 Jul 3; 57(3): 498-500

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Chromosomes,-Human,-Pair-12; Face-abnormalities; Foot-Deformities,-Congenital-genetics; Hand-Deformities,-Congenital-genetics; Heart-Defects,-Congenital-genetics; Infant,-Newborn; Karyotyping-; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *In-Situ-Hybridization,-Fluorescence

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: LETTER

MEDLINE ACCESSION NUMBER: 1995407645

UPDATE CODE: 199512

Record 14 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Hypopigmentation of the fundi associated with Pallister-Killian syndrome.

AUTHOR(S): Birch-M; Patterson-A; Fryer-A

ADDRESS OF AUTHOR: St Paul's Eye Unit, Royal Liverpool University Hospital, United Kingdom.

SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr-Ophthalmol-Strabismus. 1995 Mar-Apr; 32(2): 128-31

INTERNATIONAL STANDARD SERIAL NUMBER: 0191-3913

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Electroretinography-; Facial-Bones-abnormalities; Fundus-Oculi; Growth-Disorders-genetics; Hair-abnormalities; Infant,-Newborn; Mosaicism-; Muscle-Hypotonia-genetics; Nystagmus-genetics; Retina-pathology; Retinitis-Pigmentosa-diagnosis; Skull-abnormalities; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosome-Aberrations; *Chromosomes,-Human,-Pair-12; *Mental-Retardation-genetics; *Retinitis-Pigmentosa-genetics

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1995356019

UPDATE CODE: 199511

Record 15 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: The Pallister-Killian syndrome in an African individual.

AUTHOR(S): Woodman-BF; Jordan-MA; Moller-LI; Cartwright-JD; De-Ravel-TJ

ADDRESS OF AUTHOR: Department of Human Genetics, School of Pathology, South African Institute for Medical Research.

SOURCE (BIBLIOGRAPHIC CITATION): Genet-Couns. 1995; 6(1): 33-6

INTERNATIONAL STANDARD SERIAL NUMBER: 1015-8146

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: SWITZERLAND

ABSTRACT: We report for the first time an individual of Zulu origin with the Pallister-Killian syndrome. Apart from the commonly reported clinical signs, he also had frenula in all four quadrants of the mouth. A broad, short hallux was present. An unusually high level of mosaicism for the isochromosome 12p was found in the lymphocytes.

MINOR MESH HEADINGS: Africa,-Southern; Aneuploidy-; Infant-; Isochromosomes-; Mental-Retardation-genetics; Mosaicism-; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosome-Aberrations; *Chromosomes,-Human,-Pair-12

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES

MEDLINE ACCESSION NUMBER: 1995314810

UPDATE CODE: 199510

Record 16 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Failure of amniotic-fluid-cell growth: is it related to fetal aneuploidy? [see comments]

COMMENTS: Comment in: Lancet 1995 Apr 8;345(8954):924. Comment in: Lancet 1995 Apr 8;345(8954):924-5

AUTHOR(S): Persutte-WH; Lenke-RR

ADDRESS OF AUTHOR: Department of Obstetrics and Gynaecology, University of Colorado Health Sciences Center, Denver 80262.

SOURCE (BIBLIOGRAPHIC CITATION): Lancet. 1995 Jan 14; 345(8942): 96-7

INTERNATIONAL STANDARD SERIAL NUMBER: 0140-6736

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: We investigated outcome in patients whose amniotic-fluid-cell samples showed unexplained growth failure in culture. 32 of 7872 amniocentesis samples were classified as unexplained growth failures. 10 women did not have repeat cytogenetic testing, but among their pregnancies there were 4 abnormal outcomes (1 fetal bladder-outlet obstruction, 2 stillbirths, and 1 acardiac twin). Of the 22 patients who had repeat karyotypic analysis, 18 had normal fetal karyotypes. However, 4 fetuses were aneuploid (2 trisomy 21, 1 trisomy 13, and 1 Pallister-Killian syndrome).

MINOR MESH HEADINGS: Cell-Division; Cells,-Cultured; Fetal-Diseases-diagnosis; Pregnancy-; Retrospective-Studies

MAJOR MeSH HEADINGS: *Amniocentesis-; *Amniotic-Fluid-cytology; *Aneuploidy-; *Chromosome-Abnormalities-diagnosis

CHECKTAGS: Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1995115499

UPDATE CODE: 199504

SUBSET: AIM

Record 17 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.

AUTHOR(S): Horn-D; Majewski-F; Hildebrandt-B; Korner-H

ADDRESS OF AUTHOR: Institute of Medical Genetics, School of Medicine (Charite), Humboldt University, Berlin, Germany.

SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1995 Jan; 32(1): 68-71

INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: We report on two patients with Pallister-Killian syndrome: an 18 month old male infant followed since the neonatal period and a 4 year old boy. Prenatal diagnosis by chorionic villi sampling (CVS) in the first case showed a normal karyotype without mosaicism. Chromosome analysis on peripheral lymphocytes of the newborn also showed a normal karyotype. The clinical diagnosis of Pallister-Killian syndrome was made after the first year of life because of the typical facial dysmorphism and other characteristic clinical features, such as frontotemporal alopecia, depigmented area of the skin, sensorineural hearing loss, and severe psychomotor retardation. Chromosome analysis from skin fibroblasts now showed an isochromosome 12p mosaicism. The origin of the extra chromosome was confirmed by in situ hybridisation using a chromosome 12 specific library. In the second case chromosomal analysis from peripheral lymphocytes at the age of 19 months showed a normal karyotype 46,XY. Following the clinical diagnosis of Pallister-Killian syndrome a superficial skin biopsy was performed which showed very poor and slow growth of cells and a normal karyotype. Because of the typical symptoms a larger and deeper skin biopsy was performed from which there was rapid growth of fibroblasts. Now the diagnosis was established on the basis of the presence of an i(12p) extra chromosome in 69% of the metaphases.

MINOR MESH HEADINGS: Child,-Preschool; Chorionic-Villi-Sampling; Chromosome-Abnormalities-genetics; Fibroblasts-cytology; In-Situ-Hybridization; Infant-; Karyotyping-; Mental-Retardation-genetics; Skin-cytology

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Aneuploidy-; *Chromosome-Abnormalities-diagnosis; *Chromosomes,-Human,-Pair-12; *Mosaicism-

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1995205382

UPDATE CODE: 199506

Record 18 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome.

AUTHOR(S): Rodriguez-JI; Garcia-I; Alvarez-J; Delicado-A; Palacios-J

ADDRESS OF AUTHOR: Department of Pathology, La Paz Hospital, Madrid, Spain.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Nov 1; 53(2): 176-81

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by "coarse" face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a "coarse" face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lymphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newborn infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of "coarse" face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling.

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Aneuploidy-; Chromosomes,-Human,-Pair-12; Diagnosis,-Differential; Epilepsy-genetics; Extremities-abnormalities; Face-abnormalities; Genes,-Lethal; Hernia,-Diaphragmatic-genetics; In-Situ-Hybridization; Infant,-Newborn; Mental-Retardation-genetics; Mosaicism-; Phenotype-; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics

CHECKTAGS: Case-Report; Comparative-Study; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1995160019

UPDATE CODE: 199505

Record 19 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Tetrasomy 12p (Pallister-Killian syndrome): ultrasound indicators and confirmation by interphase fish.

AUTHOR(S): Wilson-RD; Harrison-K; Clarke-LA; Yong-SL

ADDRESS OF AUTHOR: University of British Columbia, Vancouver, Canada.

SOURCE (BIBLIOGRAPHIC CITATION): Prenat-Diagn. 1994 Sep; 14(9): 787-92

INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: Tetrasomy 12p (Pallister-Killian syndrome) is a mosaic aneuploidy syndrome in which the isochromosome is present in amniocytes with a much greater percentage than fetal lymphocytes. Two new cases identified by prenatal diagnosis are reported. Indications for prenatal diagnosis were advanced maternal age and fetal anomalies. The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia. Recognition of congenital malformation patterns prenatally may allow appropriate selection of tissue for chromosome analysis. Molecular cytogenetic analysis using fluorescence in situ hybridization was used retrospectively to confirm the presence of the isochromosome 12p in various formalin-fixed fetal tissues. The levels of mosaicism detected in fetal and placental tissues were lower than those detected prenatally.

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Abnormalities,-Multiple-genetics; Adult-; Amniocentesis-; Amniotic-Fluid-cytology; Aneuploidy-; Chromosome-Abnormalities-diagnosis; Chromosome-Abnormalities-genetics; Fetal-Diseases-diagnosis; Fetal-Diseases-genetics; In-Situ-Hybridization,-Fluorescence; Interphase-; Mosaicism-diagnosis; Mosaicism-genetics; Pregnancy-; Prenatal-Diagnosis-methods; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-ultrasonography; *Chromosome-Abnormalities-ultrasonography; *Chromosomes,-Human,-Pair-12; *Fetal-Diseases-ultrasonography; *Ultrasonography,-Prenatal

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1995148439

UPDATE CODE: 199505

Record 20 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Pallister-Killian syndrome: an unusual presentation.

AUTHOR(S): el-Naggar-M; Hawthorne-M

ADDRESS OF AUTHOR: Department of Otorhinolaryngology, North Riding Infirmary, Middlesbrough.

SOURCE (BIBLIOGRAPHIC CITATION): J-Laryngol-Otol. 1994 Aug; 108(8): 669-70

INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2151

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: We present a nine-month-old baby, diagnosed as having Pallister-Killian syndrome, whose referral and investigation for possible hearing loss has led to this diagnosis. Emphasis is placed on the importance of the skin biopsy for the diagnosis of this underlying genetic abnormality.

MINOR MESH HEADINGS: Chromosome-Abnormalities-diagnosis; Infant-; Mosaicism-

MAJOR MeSH HEADINGS: *Chromosome-Abnormalities; *Chromosomes,-Human,-Pair-12; *Hearing-Loss,-Sensorineural-genetics

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1995016260

UPDATE CODE: 199501

SUBSET: AIM

Record 21 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Cytogenetic study of a severe case of Pallister-Killian syndrome using fluorescence in situ hybridization.

AUTHOR(S): Gamal-SM; Hasegawa-T; Satoh-H; Watanabe-T; Endo-K; Satoh-Y

ADDRESS OF AUTHOR: Division of Clinical Genetics, Shizuoka Children's Hospital, Japan.

SOURCE (BIBLIOGRAPHIC CITATION): Jpn-J-Hum-Genet. 1994 Jun; 39(2): 259-67

INTERNATIONAL STANDARD SERIAL NUMBER: 0916-8478

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: JAPAN

ABSTRACT: Usually, the supernumerary isochromosome 12p characterizing Pallister-Killian syndrome patients was detected in cultured skin fibroblasts but not in cultured blood lymphocytes. The proband of this study was a one-day-old female, who presented with major clinical characteristics of the Pallister-Killian syndrome, and had severe malformations in the form of anal atresia, cleft palate, and severe laryngomalacia. Chromosome preparations from cultured blood lymphocytes and skin fibroblasts, as well as buccal smears, from this patient were analyzed by fluorescence in situ hybridization (FISH) using a chromosome 12-specific alpha satellite probe. The proportions of cells showing positive signals for i(12p) in these samples were found to be 20, 62.5, and 70%, respectively. Repeated FISH studies of buccal smears from this patient showed considerable decreases in the proportions of i(12p) containing cells to 40% at one year of age and to 32% at the age of one year and five months. The decline in the percentage of i(12p)-containing cells in buccal smears with aging supports the concept of in vivo loss of the marker during repeated cell division.

MINOR MESH HEADINGS: Aging-genetics; In-Situ-Hybridization,-Fluorescence; Infant,-Newborn; Mental-Retardation-genetics; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosome-Abnormalities-genetics; *Chromosomes,-Human,-Pair-12; *Mosaicism-

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES

MEDLINE ACCESSION NUMBER: 1994369050

UPDATE CODE: 199412

Record 22 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling--its diagnostic problems [letter]

AUTHOR(S): Boyle-AH; Kulkarni-R; Smoleniec-JS; Davies-T; McDermott-A

SOURCE (BIBLIOGRAPHIC CITATION): Prenat-Diagn. 1993 Dec; 13(12): 1160-1

INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851

PUBLICATION YEAR: 1993

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

MINOR MESH HEADINGS: Adult-; False-Negative-Reactions; Mosaicism-; Pregnancy-; Syndrome-

MAJOR MeSH HEADINGS: *Chorionic-Villi-Sampling; *Chromosome-Aberrations; *Chromosomes,-Human,-Pair-12

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: LETTER

MEDLINE ACCESSION NUMBER: 1994232969

UPDATE CODE: 199408

Record 23 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Pallister-Killian syndrome in older children and adolescents.

AUTHOR(S): Horneff-G; Majewski-F; Hildebrand-B; Voit-T; Lenard-HG

ADDRESS OF AUTHOR: Department of Pediatrics, University of Dusseldorf, Germany.

SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Neurol. 1993 Jul-Aug; 9(4): 312-5

INTERNATIONAL STANDARD SERIAL NUMBER: 0887-8994

PUBLICATION YEAR: 1993

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: The Pallister-Killian syndrome is caused by a mosaic tetrasomy of the short arm of chromosome 12. Although analysis of peripheral blood lymphocytes usually reveals a normal karyotype, an isochromosome 12p mosaicism is detectable in fibroblast cultures; therefore, in this rare chromosomal aberration, clinical recognition is crucial for appropriate cytogenetic investigations. The phenotype of younger children has already been well documented. During childhood and adolescence, however, the phenotype changes markedly. The disorder in older children and young adults is characterized by a coarse and flat facies, macroglossia prognathia, everted lower lip, and severe psychomotor retardation with muscular hypertonia and contractures. Two severely mentally retarded patients are reported whose diagnoses were confirmed by fibroblast cultures at ages 16 and 21 years.

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Adolescence-; Adult-; Child-; Child,-Preschool; Chromosome-Abnormalities-diagnosis; Chromosome-Banding; Contracture-diagnosis; Contracture-genetics; Facial-Bones-abnormalities; Infant-; Infant,-Newborn; Karyotyping-; Mental-Retardation-diagnosis; Neurologic-Examination; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosome-Abnormalities-genetics; *Chromosomes,-Human,-Pair-12; *Mental-Retardation-genetics; *Mosaicism-

CHECKTAGS: Case-Report; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1994030270

UPDATE CODE: 199402

Record 24 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Pallister-Killian and Fryns syndromes: nosology [see comments]

COMMENTS: Comment in: Am J Med Genet 1994 May 15;51(1):90

AUTHOR(S): McPherson-EW; Ketterer-DM; Salsburey-DJ

ADDRESS OF AUTHOR: Department of Genetics, Magee Womens Hospital, Pittsburgh, PA.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1993 Aug 15; 47(2): 241-5

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1993

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Fryns syndrome is a lethal autosomal recessive multiple congenital anomaly syndrome characteristic "coarse" facies, cleft palate, diaphragmatic hernia, and distal digital hypoplasia. The appearance of the face and digits is very similar to that observed in Pallister-Killian syndrome (mosaic isochromosome 12p), although the incidence of cleft palate, diaphragmatic hernia, and neonatal death is much lower in the latter condition. We report on an infant with many manifestations of Fryns syndrome ("coarse" face, cleft palate, cloudy corneae, diaphragmatic hernia, distal digital hypoplasia, and neonatal death) who was found to be mosaic for i(12p). Her diagnosis was changed to Pallister-Killian syndrome and the family was counselled accordingly. The clinical overlap between Fryns and Pallister-Killian syndromes is discussed. Because the chromosome abnormality in Pallister-Killian syndrome is often limited to fibroblasts and may be selectively eliminated both in vivo and in vitro, some Pallister-Killian patients may be misdiagnosed with Fryns syndrome and given an erroneously high recurrence risk. Newborn infants with the Fryns or Pallister-Killian phenotypes should have chromosome studies involving multiple tissues so that the correct diagnosis can be made. This will contribute to the understanding of both disorders and facilitate appropriate genetic counselling.

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Cleft-Palate-genetics; Diagnosis,-Differential; Fatal-Outcome; Genes,-Lethal; Hand-Deformities,-Congenital-genetics; Hernia,-Diaphragmatic-congenital; Infant,-Newborn; Karyotyping-; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-classification; *Abnormalities,-Multiple-genetics; *Chromosome-Aberrations; *Chromosomes,-Human,-Pair-12; *Face-abnormalities; *Mosaicism-

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1994027158

UPDATE CODE: 199401

Record 25 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Prenatal diagnosis of tetrasomy 12p (Pallister-Killian syndrome) [letter; comment]

COMMENTS: Comment on: Prenat Diagn 1992 Jun;12(6):529-34

AUTHOR(S): Priest-JH

SOURCE (BIBLIOGRAPHIC CITATION): Prenat-Diagn. 1993 Feb; 13(2): 152

INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851

PUBLICATION YEAR: 1993

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

MINOR MESH HEADINGS: Mosaicism-; Pregnancy-

MAJOR MeSH HEADINGS: *Amniocentesis-; *Chromosome-Abnormalities-diagnosis; *Chromosomes,-Human,-Pair-12; *Fetal-Diseases-diagnosis

CHECKTAGS: Female; Human

PUBLICATION TYPE: COMMENT; LETTER

MEDLINE ACCESSION NUMBER: 1993219282

UPDATE CODE: 199307

Record 26 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Diaphragmatic hernia in tetrasomy 12p mosaicism.

AUTHOR(S): Bergoffen-J; Punnett-H; Campbell-TJ; Ross-AJ 3d; Ruchelli-E; Zackai-EH

ADDRESS OF AUTHOR: Department of Human Genetics, Children's Hospital of Philadelphia, PA 19104.

SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr. 1993 Apr; 122(4): 603-6

INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3476

PUBLICATION YEAR: 1993

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Twelve infants with diaphragmatic hernias plus other anomalies who had mosaicism for tetrasomy isochromosome 12p (Pallister-Killian syndrome) are reviewed. A newborn infant with a diaphragmatic hernia plus dysmorphic features and a normal peripheral blood karyotype should have chromosome analysis performed on fibroblasts or bone marrow.

MINOR MESH HEADINGS: Hernia,-Diaphragmatic-genetics; Infant,-Newborn; Karyotyping-; Mental-Retardation-genetics

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosome-Aberrations; *Chromosomes,-Human,-Pair-12; *Hernia,-Diaphragmatic-congenital; *Mosaicism-

CHECKTAGS: Case-Report; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1993217769

UPDATE CODE: 199307

SUBSET: AIM

Record 27 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: Molecular cytogenetic study of patients with Pallister-Killian syndrome.

AUTHOR(S): Larramendy-M; Heiskanen-M; Wessman-M; Ritvanen-A; Peltomaki-P; Simola-K; Kaariainen-H; von-Koskull-H; Kahkonen-M; Knuutila-S

ADDRESS OF AUTHOR: Department of Medical Genetics, University of Helsinki, Finland.

SOURCE (BIBLIOGRAPHIC CITATION): Hum-Genet. 1993 Mar; 91(2): 121-7

INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6717

PUBLICATION YEAR: 1993

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: GERMANY

ABSTRACT: The Pallister-Killian syndrome (PKS) is characterized by tissue limited chromosomal mosaicism, i.e. the presence of a supernumerary metacentric chromosome [i(12p)] often confined to skin fibroblasts while the karyotype of cultured lymphocytes is normal. In the present study, chromosome painting by chromosomal in situ suppression (CISS) hybridization and interphase cytogenetic procedures employing biotinylated or digoxigenin labelled probes was carried out. These probes comprised a chromosome 12 specific library (LA 12NS01) and chromosome 12 centromere specific alpha-satellite (pSP12-1). They were used to analyse and quantify the presence of i(12p) in lymphocytes, granulocytes/monocytes, skin fibroblasts and buccal mucosal cells from five patients and one aborted fetus with PKS, and ten normal donors. CISS hybridization on mitotic skin fibroblasts reliably indicated the presence of i(12p) cells, even when metaphases of poor quality were included in the analysis. Two of the five patients showed i(12p) in a small proportion (< or = 0.5%) of the cultured lymphocytes too. The interphase cytogenetics procedure did not reveal the isochromosome in lymphocytes or granulocytes/monocytes in any of the patients. Two of the six patients had a twofold increase in the number of buccal mucosal cells with three hybridization signals over control values. However, for mucosal cells, methodological improvements are required. For cytogenetic diagnosis of PKS, cultured fibroblasts subjected to chromosome painting by CISS hybridization with a chromosome 12 specific library probe are recommended.

MINOR MESH HEADINGS: Adolescence-; Centromere-; Child-; DNA-Probes; DNA,-Satellite-analysis; Fibroblasts-; Gene-Library; In-Situ-Hybridization; Lymphocytes-; Syndrome-

MAJOR MeSH HEADINGS: *Aneuploidy-; *Chromosome-Abnormalities-genetics; *Chromosomes,-Human,-Pair-12; *Mosaicism-

CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0; 0

NAME OF SUBSTANCE: DNA-Probes; DNA,-Satellite

MEDLINE ACCESSION NUMBER: 1993216276

UPDATE CODE: 199307

Record 28 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: [A case of neonatal Pallister-Killian syndrome (tetrasomy 12p)]

ORIGINAL TITLE: Presentacion neonatal del sindrome de Pallister-Killian (tetrasomia 12p).

AUTHOR(S): Gonzalez-de-Dios-J; Garcia-Alix-Perez-A; Diaz-de-Bustamante-A; Delicado-Navarro-A; Ares-Segura-S; Salas-Hernandez-S; Quero-Jimenez-J

ADDRESS OF AUTHOR: Servicio de Neonatologia, Hospital Infantil La Paz, Universidad Autonoma de Madrid.

SOURCE (BIBLIOGRAPHIC CITATION): An-Esp-Pediatr. 1993 Mar; 38(3): 277-9

INTERNATIONAL STANDARD SERIAL NUMBER: 0302-4342

PUBLICATION YEAR: 1993

LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH

COUNTRY OF PUBLICATION: SPAIN

MINOR MESH HEADINGS: Chromosomes,-Human,-Pair-12; Infant-; Infant,-Newborn; Karyotyping-; Mosaicism-; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosome-Abnormalities-genetics

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1993213001

UPDATE CODE: 199307

Record 29 of 29 in MEDLINE EXPRESS (R) 1993-1995

TITLE: New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization.

AUTHOR(S): Ohashi-H; Ishikiriyama-S; Fukushima-Y

ADDRESS OF AUTHOR: Division of Medical Genetics, Saitama Children's Medical Center, Japan.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1993 Jan 1; 45(1): 123-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1993

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Detection of the supernumerary isochromosome 12p [i(12p)] was performed on buccal smear preparations from 2 patients with Pallister-Killian syndrome, 21 (patient 1) and 15 months (patient 2) old, by interphase fluorescence in situ hybridization (FISH) using a chromosome 12-specific alpha satellite probe. Isochromosome 12p-positive cells were identified by observing 3 signals over the nucleus, while diploid cells had 2 signals. The proportion of i(12p)-positive cells thus identified was high in the epithelial cells of buccal mucosa at 68 and 53% from patients 1 and 2, respectively. Further, the frequencies of i(12p)-positive cells were also studied in PHA-stimulated peripheral lymphocytes, cultured skin fibroblasts (both patients), and directly harvested T and B-cells (patient 1). Of these tissues, buccal mucosa showed the highest proportion of i(12p)-positive cells. These findings indicate that epithelial cells of buccal mucosa are likely to retain i(12p)-positive cells. Detection of i(12p) using direct buccal smear preparations by interphase FISH is a rapid, effective and non-invasive method for confirming the diagnosis of the Pallister-Killian syndrome.

MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Cell-Nucleus-pathology; In-Situ-Hybridization,-Fluorescence; Infant-; Interphase-genetics; Mental-Retardation-genetics; Mouth-Mucosa-pathology; Mouth-Mucosa-ultrastructure; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-pathology; *Chromosomes,-Human,-Pair-12; *Mental-Retardation-pathology

CHECKTAGS: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 1993118695

UPDATE CODE: 199304

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