A literature search at Indiana University, Bloomington, IndianaNORD, The National Organization of Rare Diseases, has the following to say about PKS:
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.)
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. Record 1 of 7 in MEDLINE(R) on CD 2001/07-2001/09TITLE: Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker.
AUTHOR: Dufke,-A; Walczak,-C; Liehr,-T; Starke,-H; Trifonov,-V; Rubtsov,-N; Schoning,-M; Enders,-H; Eggermann,-T
ADDRESS OF AUTHOR: Abteilung Medizinische Genetik, Klinikum der Eberhard-Karls-Universitat Tubingen, Germany. andreas.dufke@uni-tuebingen.de
SOURCE: Eur-J-Hum-Genet. 2001 Aug; 9(8): 572-6
INTERNATIONAL STANDARD SERIAL NUMBER: 1018-4813
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: England
ABSTRACT: Cytogenetic analysis in a girl with multiple congenital anomalies indicating Pallister-Killian syndrome (PKS) showed a supernumerary marker chromosome in 1/76 lymphocytes and 34/75 fibroblast metaphases. GTG-banding pattern was consistent with the chromosomal region 12pter-12q11. While fluorescence-in-situ hybridisation (FISH) with a whole chromosome 12 painting probe confirmed the origin of the marker, a chromosome 12 specific alpha-satellite probe did not hybridise to it. FISH analysis with a specific subtelomeric probe 12p showed hybridisation to both ends of the marker chromosome. High-resolution multicolour-banding (MCB) studies revealed the marker to be a der(12)(pter-->p12.3::p12.3-->pter). Summarising the FISH information, we defined the marker as an inverted duplication of 12pter-12p12.3 leading to partial tetrasomy of chromosome 12p. In skin fibroblasts, cultured at the patient's age of 1 year and 9 years, the marker chromosome was found in similar frequencies, even after several culture passages. Therefore, we consider the marker to have a functional centromere although it lacks detectable centromeric alpha-satellite sequences. To the best of our knowledge, this is the first proven analphoid marker of chromosome 12. Molecular genetic studies indicated that this marker is of paternal origin. The finding of partial tetrasomy 12pter-12p12.3 in our PKS patient allows to narrow down the critical region for PKS.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-genetics; *Aneuploidy-; *Chromosomes,-Human,-Pair-12-genetics; *Genetic-Markers-genetics; *Inversion-Genetics
MINOR MESH DESCRIPTORS: Child-; Child,-Preschool; Craniofacial-Abnormalities-genetics; Fingers-abnormalities; Infant-; Infant,-Newborn; Skull-abnormalities; Syndrome-
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics; abnormalities
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Genetic-Markers
SUBSET: Index-Medicus
UPDATE CODE: 20010920
ACCESSION NUMBER: 21419061
RECORD FEATURES: ABSTRACT (AB)
Record 2 of 7 in MEDLINE(R) on CD 2001/07-2001/09
TITLE: Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.
AUTHOR: Abramovich,-C-M; Prayson,-R-A; McMahon,-J-T; Cohen,-B-H
ADDRESS OF AUTHOR: Departments of Anatomic Pathology and Pediatric Neurology, The Cleveland Clinic Foundation, Cleveland, OH, USA.
SOURCE: Hum-Pathol. 2001 Jun; 32(6): 649-55
INTERNATIONAL STANDARD SERIAL NUMBER: 0046-8177
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: United-States
ABSTRACT: There is little information in the literature regarding the usefulness of ultrastructural examination of axillary skin biopsies in the evaluation of metabolic diseases. This is a retrospective clinicopathologic review of 143 patients who underwent axillary skin biopsies as part of evaluations for metabolic disease. Twenty-three (16%) had abnormalities, classified as follows: mitochondrial (n = 12), lysosomal (n = 6), increased glycogen (n = 3), nonspecific cytoplasmic inclusions (n = 2), ceroid lipofuscinosis (n = 1), and intradermal giant cells containing vacuoles and tubular inclusions (n = 1). Muscle biopsies were performed in 13 of the 23 patients; 11 showed abnormalities, including those related to mitochondria (n = 4) and other nonspecific changes (n = 7). Two patients underwent postmortem examination. Follow-up was available in 21 patients. A clinical or biochemical diagnosis was reached in 11 patients: metachromatic leukodystrophy (n = 2), electron transport chain abnormalities (n = 2), glutaric aciduria type II (n = 1), Unverricht disease (n = 1), Lennox-Gastaut syndrome (n = 1), ketotic hypoglycemia of childhood (n = 1), probable Leigh disease (n = 1), 5-methyl tetrahydrofolate homocystine methyltransferase deficiency (n = 1), and pyruvate dehydrogenase deficiency (n = 1). Of the 120 patients with negative skin biopsy results, 29 had abnormal findings on muscle (n = 27), nerve (n = 7), or brain (n = 3) biopsies. One patient had an abnormal heart biopsy result, and 3 patients underwent postmortem examinations. Follow-up was obtained in 27 of 29 patients. Diagnoses were achieved in 15 patients: electron transport chain abnormalities (n = 5), cortical dysplasia (n = 3), myoclonic epilepsy (n = 1), leukodystrophy (n = 2), Pallister-Killian mosaic syndrome (n = 1), Rett syndrome (n = 1), Landau-Kleffner syndrome (n = 1), and mitochondrial cardiomyopathy (n = 1). In conclusion, axillary skin biopsy is helpful in the evaluation of some causes of metabolic disease, but often the findings are nonspecific. A negative biopsy result does not rule out the possibility of metabolic disease, but a positive result may provide direction for further evaluation. Copyright 2001 by W.B. Saunders Company.
MAJOR MESH DESCRIPTORS: *Axilla-; *Biopsy-; *Metabolism,-Inborn-Errors-diagnosis; *Skin-ultrastructure
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Child-; Child,-Preschool; Glycogen-analysis; Inclusion-Bodies-ultrastructure; Infant-; Lipids-analysis; Lysosomes-ultrastructure; Microscopy,-Electron; Middle-Age; Mitochondria-ultrastructure; Skin-chemistry; Vacuoles-ultrastructure
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: analysis; ultrastructure; diagnosis; chemistry
CAS REGISTRY NUMBER OR EC NUMBER: 0; 9005-79-2
NAME OF SUBSTANCE: Lipids; Glycogen
SUBSET: Index-Medicus
UPDATE CODE: 20010726
ACCESSION NUMBER: 21324469
RECORD FEATURES: ABSTRACT (AB)
Record 3 of 7 in MEDLINE(R) on CD 2001/01-2001/06
TITLE: [Pallister-Killian syndrome]
AUTHOR: Hasegawa,-T
ADDRESS OF AUTHOR: Division of Clinical Genetics and Cytogenetics, Shizuoka Children's Hospital.
SOURCE: Ryoikibetsu-Shokogun-Shirizu. 2000; (30 Pt 5): 26-9
PUBLICATION YEAR: 2000
LANGUAGE: Japanese; Non-English
COUNTRY OF PUBLICATION: JAPAN
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-genetics; *Abnormalities,-Multiple-physiopathology; *Psychomotor-Disorders-genetics
MINOR MESH DESCRIPTORS: Aneuploidy-; Chromosomes,-Human,-Pair-12-genetics; Diagnosis,-Differential; Infant-; Infant,-Newborn; Prognosis-; Syndrome-
CHECKTAGS: Human
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: genetics; physiopathology
SUBSET: Index-Medicus
UPDATE CODE: 20010125
ACCESSION NUMBER: 20510895
Record 4 of 7 in MEDLINE(R) on CD 2001/01-2001/06
TITLE: Prospective ultrasound diagnosis of Pallister-Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile.
AUTHOR: Paladini,-D; Borghese,-A; Arienzo,-M; Teodoro,-A; Martinelli,-P; Nappi,-C
ADDRESS OF AUTHOR: Fetal Cardiology Unit, Department of Gynecology & Obstetrics, University Federico II of Naples, Naples, Italy. paladini@cds.unina.it
SOURCE: Prenat-Diagn. 2000 Dec; 20(12): 996-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: The Pallister-Killian syndrome (PKS) represents a rare polymalformative complex characterized by a tissue-specific mosaic distribution of an additional isochromosome 12p and characterized by diaphragmatic hernia, rhizomelic limb shortening, facial anomalies and, rarely, acral hypoplasia. Since diaphragmatic hernia and acral hypoplasia can be also found in Fryns syndrome, the differential diagnosis between the two conditions depends on the demonstration of the 12p isochromosome by FISH. Prenatal diagnosis of PKS has been reported in cases submitted to karyotyping due to advanced maternal age or congenital anomalies detected on second trimester ultrasound. Among the ultrasound-detected malformations, little attention has been paid to facial anomalies. We describe a case in which PKS was prospectively suspected on the basis of the various anomalies detected at ultrasound, namely diaphragmatic hernia, rhizomelic limb shortening, and abnormal facial profile. The diagnosis was then confirmed by FISH on amniocytes and peripheral lymphocytes. In the present case, the disclosure of typical facial abnormalities significantly contributed to the differentiation between PKS and Fryns syndrome. Copyright 2000 John Wiley & Sons, Ltd.
MAJOR MESH DESCRIPTORS: *Facies-; *Hernia,-Diaphragmatic-ultrasonography; *Hydrocephalus-ultrasonography; *Limb-Deformities,-Congenital-ultrasonography
MINOR MESH DESCRIPTORS: Adult-; Amniocentesis-methods; Chromosomes,-Human,-Pair-12; Hernia,-Diaphragmatic-pathology; Hydrocephalus-pathology; In-Situ-Hybridization,-Fluorescence; Limb-Deformities,-Congenital-pathology; Pregnancy-Trimester,-Second; Syndrome-
CHECKTAGS: Case-Report; Female; Human; Pregnancy
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: methods; pathology; ultrasonography
SUBSET: Index-Medicus
UPDATE CODE: 20010109
ACCESSION NUMBER: 20565952
RECORD FEATURES: ABSTRACT (AB)
Record 5 of 7 in MEDLINE(R) on CD 2001/01-2001/06
TITLE: The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa.
AUTHOR: Manasse,-B-F; Lekgate,-N; Pfaffenzeller,-W-M; de-Ravel,-T-J
ADDRESS OF AUTHOR: Department of Human Genetics, The South African Institute for Medical Research and The University of the Witwatersrand, Johannesburg.
SOURCE: Clin-Dysmorphol. 2000 Jul; 9(3): 163-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0962-8827
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: The Pallister-Killian syndrome is a rare disorder, which is clinically diagnosed and usually confirmed by the detection of mosaicism for an isochromosome 12p in fibroblast cultures. To date FISH on buccal mucosa has been used in only three cases and this detected high levels of mosaicism for the isochromosome. We review one previously reported case [Woodman et al. (1995) Genet Couns 6:33-36] and report a further seven clinically suspected cases in which the diagnoses were confirmed by FISH on buccal mucosa, and recommend that this tissue be used routinely for laboratory confirmation. The presence of the isochromosome 12p at levels as low as 1% is acceptable.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-diagnosis; *Chromosomes,-Human,-Pair-12; *Developmental-Disabilities-diagnosis; *Mental-Retardation-diagnosis; *Mosaicism-; *Mouth-Mucosa
MINOR MESH DESCRIPTORS: Abnormalities,-Multiple-genetics; Child-; Developmental-Disabilities-genetics; In-Situ-Hybridization,-Fluorescence; Mental-Retardation-genetics; Syndrome-
CHECKTAGS: Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis; genetics
SUBSET: Index-Medicus
UPDATE CODE: 20001207
ACCESSION NUMBER: 20410441
RECORD FEATURES: ABSTRACT (AB)
Record 6 of 7 in MEDLINE(R) on CD 2001/01-2001/06
TITLE: Pallister-Killian syndrome: case report with pineal tumor.
AUTHOR: Mauceri,-L; Sorge,-G; Incorpora,-G; Pavone,-L
ADDRESS OF AUTHOR: Division of Pediatric Neurology, University of Catania, Catania, Italy.
SOURCE: Am-J-Med-Genet. 2000 Nov 6; 95(1): 75-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Pallister-Killian syndrome, an aneuploidy syndrome, comprises a characteristic facial appearance, mental retardation, and multiple other anomalies. It is caused by mosaicism with a supernumerary isochromosome 12p. This chromosomal abnormality has been reported also in human germ cell tumors. We report on a 15-year-old girl with Pallister-Killian syndrome and pineal tumor. Copyright 2000 Wiley-Liss, Inc.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-genetics; *Chromosome-Abnormalities; *Chromosomes,-Human,-Pair-12-genetics
MINOR MESH DESCRIPTORS: Abnormalities,-Multiple-pathology; Adolescence-; Brain-Neoplasms-pathology; Face-abnormalities; Isochromosomes-; Mental-Retardation-genetics; Pineal-Body-pathology; Pinealoma-pathology; Syndrome-
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics; pathology; abnormalities
SUBSET: Index-Medicus
UPDATE CODE: 20001130
ACCESSION NUMBER: 20529000
RECORD FEATURES: ABSTRACT (AB)
Record 7 of 7 in MEDLINE (R) 2000
TITLE: Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21.
AUTHOR: Langford,-K; Hodgson,-S; Seller,-M; Maxwell,-D
ADDRESS OF AUTHOR: Fetal Medicine Unit, 15th Floor Guy's Tower, Guy's Hospital, London SE1 9RT, UK. kate.langford@gstt.sthames.nhs.uk
SOURCE: Prenat-Diagn. 2000 Aug; 20(8): 670-2
INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening scan for trisomy 21. Copyright 2000 John Wiley & Sons, Ltd.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-ultrasonography; *Down-Syndrome-ultrasonography; *Neck-embryology; *Neck-ultrasonography
MINOR MESH DESCRIPTORS: Abnormalities,-Multiple-genetics; Adult-; Chorionic-Villi-Sampling; Chromosomes,-Human,-Pair-12; Gestational-Age; Hydrops-Fetalis-ultrasonography; Isochromosomes-; Syndrome-
CHECKTAGS: Case-Report; Female; Human; Pregnancy
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics; ultrasonography; embryology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 20409374
RECORD FEATURES: ABSTRACT (AB)
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