Medline Thesaurus <
DEFINITION OF TERM: An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
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. )
Record 1 of 21 in MEDLINE(R) on CD 2001/07-2001/11
TITLE: Growth study of cri du chat syndrome.
AUTHOR: Collins,-M-S; Eaton-Evans,-J
ADDRESS OF AUTHOR: North and West Belfast Health and Social Services Trust, Muckamore Abbey Hospital, Antrim, BT41 4SH, UK. Psychology.Muckamore@nwb.n-i.nhs.uk
SOURCE: Arch-Dis-Child. 2001 Oct; 85(4): 337-8
INTERNATIONAL STANDARD SERIAL NUMBER: 1468-2044
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: England
ABSTRACT: We compared the growth of children with cri du chat (5p-) syndrome with the 1990 UK growth curves. Most subjects had impaired growth, particularly of head circumference. The more emaciated the child the more pronounced the microcephaly, showing the need for growth and nutrition monitoring.
Record 2 of 21 in MEDLINE(R) on CD 2001/07-2001/11
TITLE: Progressive scoliosis in cri-du-chat syndrome over a 20-year follow-up period: a case report.
AUTHOR: Saito,-N; Ebara,-S; Fukushima,-Y; Wakui,-K; Takaoka-,-K
ADDRESS OF AUTHOR: Departments of Orthopaedic Surgery and Hygiene and Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. saitoko@hsp.md.shinshu-u.ac.jp
SOURCE: Spine. 2001 Apr 1; 26(7): 835-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0362-2436
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: United-States
ABSTRACT: STUDY DESIGN: A long-term follow-up study of a patient who had scoliosis associated with cri-du-chat syndrome was performed. OBJECTIVE: To describe for the first time the characteristics and natural course of progressive scoliosis in a patient with cri-du-chat syndrome. SUMMARY OF BACKGROUND DATA: Scoliosis is a common condition in patients with cri-du-chat syndrome. However, there are no reports on the clinical characteristics and course of this spinal deformity. METHODS: The current condition and radiographs of a 33-year-old man with cri-du-chat syndrome were assessed. The records and serial radiographs of his spine were reviewed retrospectively over a 29-year period, between ages 4 and 33 years. RESULTS: The scoliosis had started before the initial radiographic examination and progressed rapidly during the growth period. After this stage, slow but continuous progression was observed over the next 10 years. The final curvature was quite substantial, measuring 119 degrees. CONCLUSIONS: To determine the most appropriate treatment for the scoliosis associated with cri-du-chat syndrome, the characteristics and natural course of the scoliosis should be clarified. Although this first report on this type of scoliosis is informative, more cases and further studies are needed.
Record 3 of 21 in MEDLINE(R) on CD 2001/07-2001/11
TITLE: Interphase FISH with chromosome-specific protelomere probes for rapid prenatal diagnosis in a reciprocal translocation carrier.
AUTHOR: Cotter,-P-D; Musci,-T-J
ADDRESS OF AUTHOR: Division of Medical Genetics, Children's Hospital Oakland, 747 52nd Street, Oakland, CA 94609, USA. pcotter@itsa.ucsf.edu
SOURCE: Prenat-Diagn. 2001 Mar; 21(3): 171-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: England
ABSTRACT: Interphase fluorescence in situ hybridization (FISH) analysis has become an accepted practice for rapid preliminary analysis of chromosome aneuploidy from direct amniocyte preparations. The use of dual-color interphase FISH analysis with chromosome-specific protelomere probes for the rapid exclusion of chromosomally unbalanced segregants in the pregnancy of a reciprocal translocation carrier is reported. Amniocentesis was performed at 16 weeks gestation on the carrier of a t(5;14)(p14.2;p13), who was ascertained after the birth of a son with the der(5) chromosome. Interphase FISH analysis with probes for 5pter, 5qter and 14qter showed two signals for each, consistent with alternate segregation of the maternal translocation. Subsequent metaphase analysis confirmed a 46,XY,t(5;14)(p14.2;p13)mat karyotype in the fetus. This case illustrates the utility of interphase FISH analysis with protelomere probes for rapid prenatal diagnosis in cases of parental reciprocal translocation. Copyright 2001 John Wiley & Sons, Ltd.
Record 4 of 21 in MEDLINE(R) on CD 2001/01-2001/06
TITLE: Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.
AUTHOR: Mainardi,-P-C; Perfumo,-C; Cali,-A; Coucourde,-G; Pastore,-G; Cavani,-S; Zara,-F; Overhauser,-J; Pierluigi,-M; Bricarelli,-F-D
ADDRESS OF AUTHOR: Divisione di Pediatria e Servizio di Genetica, Ospedale S Andrea, Cso M Abbiate 21, 13100 Vercelli, Italy. pcerruti@net4u.it
SOURCE: J-Med-Genet. 2001 Mar; 38(3): 151-8
INTERNATIONAL STANDARD SERIAL NUMBER: 1468-6244
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: England
ABSTRACT: The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a genotype-phenotype correlation, 80 patients from the Italian CdCS Register were analysed. Molecular cytogenetic analysis showed that 62 patients (77.50%) had a 5p terminal deletion characterised by breakpoint intervals ranging from p13 (D5S763) to p15.2 (D5S18). Seven patients (8.75%) had a 5p interstitial deletion, four (5%) a de novo translocation, and three (3.75%) a familial translocation. Of the remaining four patients, three (3.75%) had de novo 5p anomalies involving two rearranged cell lines and one (1.25%) had a 5p deletion originating from a paternal inversion. The origin of the deleted chromosome 5 was paternal in 55 out of 61 patients (90.2%). Genotype-phenotype correlation in 62 patients with terminal deletions highlighted a progressive severity of clinical manifestation and psychomotor retardation related to the size of the deletion. The analysis of seven patients with interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731. Furthermore, this study lends support to the hypothesis of a separate region in p15.3 for the speech delay.
Record 5 of 21 in MEDLINE(R) on CD 2001/01-2001/06
TITLE: [Cat cry syndrome]
AUTHOR: Tomita,-Y
ADDRESS OF AUTHOR: Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine.
SOURCE: Ryoikibetsu-Shokogun-Shirizu. 2000; (30 Pt 5): 314-5
PUBLICATION YEAR: 2000
LANGUAGE: Japanese; Non-English
COUNTRY OF PUBLICATION: JAPAN
Record 6 of 21 in MEDLINE(R) on CD 2001/01-2001/06
TITLE: The first three mosaic cri du chat syndrome patients with two rearranged cell lines.
AUTHOR: Perfumo,-C; Cerruti-Mainardi,-P; Cali,-A; Coucourde,-G; Zara,-F; Cavani,-S; Overhauser,-J; Bricarelli,-F-D; Pierluigi,-M
SOURCE: J-Med-Genet. 2000 Dec; 37(12): 967-72
INTERNATIONAL STANDARD SERIAL NUMBER: 1468-6244
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: UNKNOWN
Record 7 of 21 in MEDLINE(R) on CD 2001/01-2001/06
TITLE: Psychomotor development in Cri du Chat Syndrome.
AUTHOR: Cerruti-Mainardi,-P; Guala,-A; Pastore,-G; Pozzo,-G; Dagna-Bricarelli,-F; Pierluigi,-M
SOURCE: Clin-Genet. 2000 Jun; 57(6): 459-61
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: DENMARK
Record 8 of 21 in MEDLINE (R) 2000
TITLE: Growth charts for cri-du-chat syndrome: an international collaborative study.
AUTHOR: Marinescu,-R-C; Mainardi,-P-C; Collins,-M-R; Kouahou,-M; Coucourde,-G; Pastore,-G; Eaton-Evans,-J; Overhauser,-J
ADDRESS OF AUTHOR: Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
SOURCE: Am-J-Med-Genet. 2000 Sep 11; 94(2): 153-62
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Low birth weight and slow growth are frequently observed in the patients with cri-du-chat syndrome. To provide a growth reference standard for children with cri-du-chat syndrome, syndrome-specific growth charts have been developed from a combination of cross-sectional and longitudinal measurements on 374 patients from North America, Italy, Australia, and the British Isles. The data were obtained from pediatric records, parent reporting, and personal examinations at national 5p- parent support group meetings in the U.S., Italy, U.K., and Australia. The growth curves include height and weight measurements for patients ages 0 to 18 years and head circumference measurements for patients ages 0 to 15 years. Birth weight was above the 5th percentile of general population in 50% of cases: mean weight 2.8 kg +/- 1.85 SD for males and 2.6 kg +/- 1.51 SD for females. Growth curve medians were usually at or below the 5th centile of reference populations throughout life. The median head circumference falls below the 2nd centile, and this change increases with age. The charts show that compared with the standard population, most children with cri-du-chat syndrome are small at birth and as they grow most, but not all, have significant microcephaly and compromised weight for age, and to a lesser extent, compromised height for age. Am. J. Med. Genet. 94:153-162, 2000. Copyright 2000 Wiley-Liss, Inc.
Record 9 of 21 in MEDLINE (R) 2000
TITLE: Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome.
AUTHOR: Medina,-M; Marinescu,-R-C; Overhauser,-J; Kosik,-K-S
ADDRESS OF AUTHOR: Department of Neurology, Harvard Medical School and Brigham and Women's Hospital, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA.
SOURCE: Genomics. 2000 Jan 15; 63(2): 157-64
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Delta-catenin is an adherens junction protein involved in cell motility and expressed early in neuronal development. It was discovered as an interactor with presenilin-1. The genomic structure of the human delta-catenin gene (Human Gene Nomenclature Committee-approved symbol CTNND2) was determined and mapped to 5p15.2. A deletion of this chromosomal region has been associated with the cri-du-chat syndrome (CDCS), a segmental aneusomy syndrome of 5p that is associated with an unusual high-pitched cry at birth, facial dysmorphology, poor growth, and severe mental retardation. delta-catenin maps to a specific region in 5p15.2 that has been implicated in the mental retardation phenotype. The breakpoints in patients with 5p terminal deletions were characterized with respect to the severity of mental retardation and the physical location of the delta-catenin gene. A strong correlation was found between the hemizygous loss of delta-catenin and severe mental retardation. These findings and the properties of delta-catenin as a neuronal-specific protein, expressed early in development and involved in cell motility, support its role in the mental retardation of CDCS when present in only one copy. Copyright 2000 Academic Press.
Record 10 of 21 in MEDLINE (R) 2000
TITLE: Cri du chat syndrome: changing phenotype in older patients.
AUTHOR: Van-Buggenhout,-G-J; Pijkels,-E; Holvoet,-M; Schaap,-C; Hamel,-B-C; Fryns,-J-P
ADDRESS OF AUTHOR: Center for Human Genetics, Leuven, Belgium.
SOURCE: Am-J-Med-Genet. 2000 Jan 31; 90(3): 203-15
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The cri du chat syndrome or 5p deletion syndrome is a well-delineated clinical entity and has an incidence of 1/50,000 in newborn infants. A de novo deletion is present in 85% of the patients. Ten to 15% are familial cases with more than 90% due to a parental translocation and 5% due to an inversion of chromosome 5. Although the size of the deleted segment varies, the critical segment that is deleted in all patients appears to be 5p15.2. The clinical picture is well known in younger patients and includes the typical high-pitched cry, psychomotor retardation, microcephaly, growth rate failure, and craniofacial abnormalities including round face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia. With advancing age, the clinical picture becomes less striking. We present seven patients with 5p deletion syndrome, who were between age 16 and 47 years. Comparing their phenotype at several ages, a change of their phenotype was noted. Some of the clinical characteristics became more evident such as long face, macrostomia, and scoliosis. All patients were severely or profoundly mentally retarded except one patient who was mildly mentally retarded. The diagnosis was difficult to make in some of the patients who were first seen at an older age. In some of them, the craniofacial appearance resembled that seen in Angelman syndrome. Most patients had periods of destructive behavior, self mutilation, and aggression. The clinical diagnosis should be confirmed as soon as possible with cytogenetic investigation to provide specific support, prevention, and treatment of complications. Therefore, it is important to perform follow-up studies in young children to determine their outcome after infant-stimulation programs.
Record 11 of 21 in MEDLINE (R) 1999 Part B
TITLE: FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome.
AUTHOR: Marinescu,-R-C; Johnson,-E-I; Grady,-D; Chen,-X-N; Overhauser,-J
ADDRESS OF AUTHOR: Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
SOURCE: Clin-Genet. 1999 Oct; 56(4): 282-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: Most patients with cri-du-chat syndrome have a de novo deletion of the short arm of chromosome 5 (5p). In order to perform extensive phenotype-genotype correlation studies, a relatively easy method for the precise determination of the extent of a patient's deletion is essential. Towards this purpose, a set of minimally overlapping YAC clones that span 5p was identified. A BAC that maps at or near the 5p telomere was also used. A total of 110 patients with previously determined de novo terminal deletions by standard cytogenetic approaches were reanalyzed using the YAC clones and fluorescent in situ hybridization (FISH). Of the 110 samples, 4 patients were determined to have interstitial deletions, 1 patient had an unbalanced translocation, and no deletion could be detected in 2 patients. The FISH results in the 7 patients affect the clinical prognosis for some of these patients. These results demonstrate the need for supplementing standard cytogenetics with FISH analysis when an abnormal karyotype is detected.
Record 12 of 21 in MEDLINE (R) 1999 Part B
TITLE: Craniofacial maturity and perceived personality in children with Down syndrome.
AUTHOR: Fidler,-D-J; Hodapp,-R-M
ADDRESS OF AUTHOR: University of California, Los Angeles, USA.
SOURCE: Am-J-Ment-Retard. 1999 Sep; 104(5): 410-21
INTERNATIONAL STANDARD SERIAL NUMBER: 0895-8017
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: In this pair of studies, we examined whether the common perception of a positive Down syndrome personality is associated with a youthful craniofacial appearance, similar to Zebrowitz's (1997) "babyface." In Study 1, 43 observers rated photographs of age-matched children with Down syndrome, another mental retardation syndrome (5p- syndrome), and typically developing children. Those with Down syndrome were perceived as being more physically babyfaced and more likely to behave in an immature manner. We controlled for the effect of familiarity with Down syndrome in Study 2 by employing a within-etiology design in which 128 observers rated 12 pictures of 10-year-old children with Down syndrome. Results showed that more physically babyfaced children with Down syndrome are more subject to the overgeneralization.
Record 13 of 21 in MEDLINE (R) 1999 Part B
TITLE: Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.
AUTHOR: Sreekantaiah,-C; Kronn,-D; Marinescu,-R-C; Goldin,-B; Overhauser,-J
ADDRESS OF AUTHOR: Department of Pathology, New York Medical College, Valhalla, New York 10595, USA. c_sreekantaiah@nymc.edu
SOURCE: Am-J-Med-Genet. 1999 Sep 17; 86(3): 264-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report on the clinical, cytogenetic, and molecular cytogenetic findings in a 4-year-old girl who was evaluated for developmental delay and a catlike cry from birth. No other findings of cri-du-chat syndrome were present. Karyotype analysis demonstrated a de novo deletion and inverted duplication of the 5p region. The abnormality was confirmed and further defined by detailed FISH analysis using cosmid and lambda phage clones previously mapped to distinct regions of 5p. The analyses documented deletion of 5p15.3-->pter and an inverted duplication of 5p14-->5p15.3. The deleted segment on 5p contains the region implicated in the isolated catlike cry feature of the cri-du-chat syndrome, confirming that the genes involved in the catlike cry map to the distal end of 5p. Except for the catlike cry and possibly the developmental delay that may be due to the deletion of 5p, the duplication of 5p14-->5p15.3 in this patient did not present with additional anomalies. This study further demonstrates the usefulness of the molecular cytogenetic approach for characterizing complex chromosome rearrangements. Such analyses of patients with an isolated catlike cry can avoid an incorrect diagnosis of the cri-du-chat syndrome, which is associated with a more severe prognosis. Copyright 1999 Wiley-Liss, Inc.
Record 14 of 21 in MEDLINE (R) 1999 Part B
TITLE: Variability in a family with an insertion involving 5p.
AUTHOR: Marinescu,-R-C; Mamunes,-P; Kline,-A-D; Schmidt,-J; Rojas,-K; Overhauser,-J
ADDRESS OF AUTHOR: Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
SOURCE: Am-J-Med-Genet. 1999 Sep 17; 86(3): 258-63
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Cri-du-chat syndrome is due to a partial deletion of the short arm of chromosome 5 and comprises a catlike cry, minor facial anomalies, growth delays, and psychomotor retardation. We identified a family with an insertion involving chromosome areas 5p and 16q. Four relatives are balanced carriers and have a normal phenotype, 5 have inherited the insertion in an unbalanced form with 2 resulting in partial trisomy of 5p and 3 in partial monosomy of 5p. The 3 individuals show a variable phenotype with respect to mental delay and some of the findings of cri-du-chat syndrome. The extent of the 5p deletion in this family was determined using previously mapped markers. The deletion in this family was informative for further refining the phenotypic map for the cri-du-chat syndrome. This family demonstrates the importance of performing phenotype-genotype correlation studies based on the presence rather than the absence of abnormalities. Copyright 1999 Wiley-Liss, Inc.
Record 15 of 21 in MEDLINE (R) 1999 Part A
TITLE: No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome.
AUTHOR: Marinescu,-R-C; Johnson,-E-I; Dykens,-E-M; Hodapp,-R-M; Overhauser,-J
ADDRESS OF AUTHOR: Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
SOURCE: Am-J-Med-Genet. 1999 Sep 3; 86(1): 66-70
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Molecular cytogenetic and developmental assessment was performed on 50 individuals with cri-du-chat syndrome. Fluorescent in situ hybridization analysis was used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. We identified terminal deletion breakpoints mapping from 5p15.2 to 5p13. Developmental assessment was performed using the Vineland Adaptive Behavior Scales test. Composite Vineland Scores ranged from 20-75. In general, the communication score was higher than the composite score. Comparison of the size of the deletion with the composite Vineland score, as well as the Vineland Communication score, demonstrated that there was no correlation between the size of the deletion and the level of developmental delay. These results demonstrate that patients with cri-du-chat syndrome show high variability in the level of developmental achievement. Copyright 1999 Wiley-Liss, Inc.
Record 16 of 21 in MEDLINE (R) 1999 Part A
TITLE: Cri du chat and Turner syndrome features in a newborn girl with an unbalanced 45,X,psu dic(5;X)(p15.2;p22.1) karyotype: FISH and replication banding studies.
AUTHOR: Reddy,-K-S; Smith,-D-L; Ball,-C-S
ADDRESS OF AUTHOR: Cytogenetic Laboratory, Quest Diagnostics Inc, San Juan Capistrano, CA, USA.
SOURCE: Ann-Genet. 1999; 42(2): 105-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-3995
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: A newborn girl with features of Turner and Cri du chat syndromes was found to have a pseudodicentric 5;X chromosome. Her karyotype was 45,X, psu dic(5;X)(p15.2;p22.1). The net result was monosomy for 5p15.2-pter and Xp22.1-pter. Fluorescence in situ hybridization (FISH) showed the Cri du chat region was deleted. Replication banding studies to assess the X-inactivation pattern found only the X portion of the pseudodicentric chromosome to be late replicating without any apparent spread of inactivation into chromosome 5 segment. There are only two cases reported with a dicentric X; autosome. In this paper, we compare the cytogenetics of the present case and those in the literature.
Record 17 of 21 in MEDLINE (R) 1999 Part A
TITLE: De novo complete trisomy 5p: clinical report and FISH studies.
AUTHOR: Reichenbach,-H; Holland,-H; Dalitz,-E; Demandt,-C; Meiner,-A; Chudoba,-I; Lemke,-J; Claussen,-U; Froster,-U-G
ADDRESS OF AUTHOR: Institut fur Humangenetik, Universitat Leipzig, Leipzig, Germany.
SOURCE: Am-J-Med-Genet. 1999 Aug 27; 85(5): 447-51
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe a de novo trisomy 5p in a 1-year-old severely retarded boy. The complete short arm of chromosome 5 segregated as an additional marker chromosome in all metaphases. The marker was identified as 5p by conventional cytogenetic techniques (GTG, GBG, CBG) and molecular cytogenetic techniques (whole chromosome-painting probe, probes for the cri-du-chat region and the centromere, and additionally high-resolution multicolor banding using a chromosome 5-specific DNA probe cocktail). The clinical findings were similar to the established trisomy 5p phenotype including macrocephaly, facial abnormalities, tracheobronchial defects with subsequent respiratory infections, hypotonia, and psychomotor retardation. To the best of our knowledge this is the first description of an isolated complete 5p trisomy without involvement of the aberrant chromosome in any structural chromosomal rearrangements. Copyright 1999 Wiley-Liss, Inc.
Record 18 of 21 in MEDLINE (R) 1999 Part A
TITLE: A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis.
AUTHOR: Cornish,-K-M; Cross,-G; Green,-A; Willatt,-L; Bradshaw,-J-M
ADDRESS OF AUTHOR: Neuropsychology of Genetic Disorders Research Unit, Medical School, University of Nottingham, Queen's Medical Centre, UK.
SOURCE: J-Med-Genet. 1999 Jul; 36(7): 567-70
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Cri du chat syndrome is associated with a deletion on the short arm of chromosome 5. The main diagnostic feature is a high pitched, cat-like cry which has recently been localised to 5p15.3 and is separate from the remaining clinical features of the syndrome, which have been localised to 5p15.2. The present study describes a family of four who have a deletion slightly distal (5p15.3) to the critical region. Detailed neuropsychological evaluations indicated a similar pattern of cognitive performance to that reported for subjects with typical CDCS but with only minimal intellectual impairment. In addition, in this family the 5p deletion is transmitted in an autosomal dominant fashion, contrasting with most cases of CDCS, which are either de novo or occur as an unbalanced product of a balanced translocation in a normal parent. This study confirms the importance of differentiating between 5p deletions that coincide with the typical cri du chat phenotype which includes severe to profound learning disability and deletions that only delete the distal critical region that coincides with a milder degree of cognitive impairment and a much improved prognosis.
Record 19 of 21 in MEDLINE (R) 1999 Part A
TITLE: Cognitive functioning in children with typical cri du chat (5p-) syndrome.
AUTHOR: Cornish,-K-M; Bramble,-D; Munir,-F; Pigram,-J
ADDRESS OF AUTHOR: Neuropsychology of Genetic Disorders Research Unit, Medical School, University of Nottingham, Queens Medical Centre, UK.
SOURCE: Dev-Med-Child-Neurol. 1999 Apr; 41(4): 263-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0012-1622
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: This study is the first attempt to assess systematically the cognitive functioning in children diagnosed with typical cri du chat syndrome (CDCS) using neuropsychological test measures. Twenty-six children aged between 6 years 4 months and 15 years 5 months (mean 8 years 3 months) completed a battery of tasks measuring IQ level, receptive and expressive language skills, and articulation. Twenty-four children were in the severe learning-disability range with no specific verbal or performance profile. Using more finely tuned measures of cognition, however, a clear discrepancy in the pattern of language functioning was found with better receptive than expressive language skills. One implication of these findings is that parents and professionals should be more optimistic about the capacities of children with CDCS to understand more complex verbal commands than their expressive language skills would suggest.
Record 20 of 21 in MEDLINE (R) 1999 Part A
TITLE: Antenatal sonographic features of cri-du-chat syndrome.
AUTHOR: Aoki,-S; Hata,-T; Hata,-K; Miyazaki,-K
SOURCE: Ultrasound-Obstet-Gynecol. 1999 Mar; 13(3): 216-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0960-7692
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
Record 21 of 21 in MEDLINE (R) 1999 Part A
TITLE: Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition.
AUTHOR: Kjaer,-I; Niebuhr,-E
ADDRESS OF AUTHOR: Department of Orthodontics, School of Dentistry, University of Copenhagen, Denmark.
SOURCE: Am-J-Med-Genet. 1999 Jan 1; 82(1): 6-14
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The purpose of the present study was to investigate the cranial base on profile radiographs of patients with cri-du-chat syndrome and to relate the findings to current knowledge of brain malformation in an attempt to localize the developmental field affected in cri-du-chat syndrome. The material of profile radiographs of 23 patients was collected in Denmark in the 1970s. Twenty-two patients had terminal deletions of chromosome 5 (5p13.3, 5p14.1, 5p14.2, and 5p14.3), and one patient had an interstitial deletion. The cranial base angle (n-s-ba) was in most cases reduced and in no cases increased compared to age-related standards for normal individuals. Malformations in the bony contours of the sella turcica and the clivus occurred in cri-du-chat patients with terminal deletions. This specific cranial base region develops around the notochord at the location from where the rhombencephalic-derived brainstem, pons, and cerebellum have developed dorsally, and from where the neurons to the larynx have migrated ventrally. As the cranial base, the cerebellum and the larynx are involved in cri-du-chat syndrome, and attention is drawn to a new developmental field which comprises the dorsum sellae, clivus, cerebellum, and larynx. This field seemingly originates from the same notochordal location. The study has demonstrated a cranial base malformation in cri-du-chat patients, which ought to be elucidated in future research and combined with neurological and chromosomal investigations.