Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion

Clinical Genetics

Volumn 73, Issue 6, 2008, Pages 585-590

  Fang, J S ^a   Lee, K F ^b   Huang, C T ^c   Syu, C L ^a   Yang, K J ^a   Wang, L H ^a   Liao, D L ^c   Chen, C H ^a,b,c  

^a TZU CHI UNIVERSITY   (Taiwan)

^b BUDDHIST TZU CHI GENERAL HOSPITAL   (Taiwan)

^c NATIONAL HEALTH RESEARCH INSTITUTES   (Taiwan)

Author keywords

Aarray CGH; Chromosome 5p terminal deletion; Cri du chat syndrome; Mental retardation

Indexed keywords

ARIPIPRAZOLE; RISPERIDONE; VALPROIC ACID;

ADOLESCENT; ADULT; ARTICLE; AUDITORY HALLUCINATION; CAT CRY SYNDROME; CHROMOSOMAL LOCALIZATION; CHROMOSOME 5P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 5; CHROMOSOME SIZE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; EVENING DOSAGE; FAMILY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; KARYOTYPING; MALE; MENTAL DEFICIENCY; PERSECUTORY DELUSION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS;

CHROMOSOMES, HUMAN, PAIR 5; CRI-DU-CHAT SYNDROME; CYTOGENETIC ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MENTAL RETARDATION; PEDIGREE; SEQUENCE DELETION;

EID: 43449089496     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.00995.x     Document Type: Article

References (27)

1. Cerruti Mainardi P. Cri du chat syndrome. Orphanet J Rare Dis 2006: 1: 33.
2. Niebuhr E. The cri du chat syndrome: Epidemiology, cytogenetics, and clinical features. Hum Genet 1978: 44: 227-275.
3. Higurashi M, Oda M, Iijima K et al. Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns. Brain Dev 1990: 12: 770-773.
4. Mainardi PC, Perfumo C, Calì A et al. Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation. J Med Genet 2001: 38: 151-158.
5. Marinescu RC, Johnson EI, Grady D et al. FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome. Clin Genet 1999: 56: 282-288.
6. Mainardi PC, Pastore G, Castronovo C et al. The natural history of cri du chat Syndrome. A report from the Italian Register. Eur J Med Genet 2006: 49: 363-383.
7. Overhauser J, McMahon J, Oberlender S et al. Parental origin of chromosome 5 deletions in the cri-du-chat syndrome. Am J Med Genet 1990: 37: 83-86.
8. Church DM, Bengtsson U, Nielsen KV et al. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet 1995: 56: 1162-1172.
9. Kushnik T, Rao KW, Lamb AN. Familial 5p-syndrome. Clin Genet 1984: 26: 472-476.
10. Chernos JE, Fowlow SB, Cox DM. Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier. Clin Genet 1992: 41: 266-269.
11. Goodart SA, Butler MG, Overhauser J. Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome. Hum Genet 1996: 97: 802-807.
12. Dykens EM, Clarke DJ. Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome. Dev Med Child Neurol 1997: 39: 752-756.
13. Collins MS, Cornish K. A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with cri du chat syndrome. J Intellect Disabil Res 2002: 46 (Pt 2): 133-140.
14. Chuang SM, Wang TR, Jean HH, Lee FY. [The cat cry (cri du chat) syndrome: Report of a case with review of 10 cases at the National Taiwan University Hospital]. Taiwan Yi Xue Hui Za Zhi 1989: 88: 635-638.
15. Marinescu RC, Mamunes P, Kline AD et al. Variability in a family with an insertion involving 5p. Am J Med Genet 1999: 86: 258-263.
16. Sreekantaiah C, Kronn D, Marinescu RC, Goldin B, Overhauser J. Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome. Am J Med Genet 1999: 86: 264-268.
17. Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB. Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat). Am J Med Genet 2002: 108: 192-197.
18. Walker JL, Blank CE, Smith BA. Interstitial deletion of the short arm of chromosome 5 in a mother and three children. J Med Genet 1984: 21: 465-467.
19. Cornish KM, Cross G, Green A et al. A neuropsychological-genetic profile of atypical cri du chat syndrome: Implications for prognosis. J Med Genet 1999: 36: 567-570.
20. Overhauser J, Golbus MS, Schonberg SA, Wasmuth JJ. Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype. Am J Hum Genet 1986: 39: 1-10.
21. Overhauser J, Huang X, Gersh M et al. Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet 1994: 3: 247-252.
22. Gersh M, Goodart SA, Pasztor LM et al. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet 1995: 56: 1404-1410.
23. Zhang X, Snijders A, Segraves R et al. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet 2005: 76: 312-326.
24. Marinescu RC, Johnson EI, Dykens EM, Hodapp RM, Overhauser J. No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome. Am J Med Genet 1999: 86: 66-70.
25. Simmons AD, Puschel AW, McPherson JD et al. Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval. Biochem Biophys Res Commun 1998: 242: 685-691.
26. Medina M, Marinescu RC, Overhauser J et al. Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics 2000: 63: 157-164.
27. Israely I, Costa RM, Xie CW et al. Deletion of the neuron-specific protein delta-catenin leads to severe cognitive and synaptic dysfunction. Curr Biol 2004: 14: 1657-1663.