Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome.
An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002900:Chromosomes, Human, 1-3; D002901:Chromosomes, Human, 13-15; D002905:Chromosomes, Human, 4-5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014998:Y Chromosome