title: 5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly.
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.
authors.affiliation: Department of Medical Genetics, West China University of Medical Sciences, Chengdu.
authors.forename: S Z
authors.initials: SZ
authors.lastname: Zhang
authors.forename: Y C
authors.initials: YC
authors.lastname: Tang
authors.forename: F P
authors.initials: FP
authors.lastname: Dai
authors.forename: E
authors.initials: E
authors.lastname: Niebuhr
mesh_terms: D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D010018:Osteomalacia / Q000235:genetics; D010375:Pedigree; D014178:Translocation, Genetic / Q000235:genetics*