Male infant with cat cry syndrome and apparent absence of the Y chromosome.
We report a boy with cri-du-chat syndrome and apparent absence of the Y chromosome. The karyotype is interpreted as 45,X,del(5)(qter leads to p13:). The boy has normal male external genitalia and bilateral testes although no Y chromosome was found in lymphocytes or fibroblasts.
D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005347:Fibroblasts; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes; D014998:Y Chromosome