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Clin Genet. 1990 Feb;37(2):153-7.

5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly.

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1
Department of Medical Genetics, West China University of Medical Sciences, Chengdu.

Abstract

A 12-year-old boy with a history of a mewing cry after birth, severe mental retardation, Marfanoid arachnodactyly, general osteomalacia and multiple bone fractures was found to have a de novo 5p;12q chromosomal translocation. The karyotype is 46,XY,t(5;12)(12qter----12q24.1::5p15----cen----5qt er; 12pter----cen----12q24.1). The karyotypes of other examined family members are normal. The manifestations of cri du chat syndrome are explained by the loss of a small segment of 5p15 which is responsible for the major stigmata of the syndrome, and the abnormalities of the osseous system may be the results of untreated vitamin D resistant rickets.

PMID:
2311266
[Indexed for MEDLINE]
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