Translocation Y/5 resulting in Cri du Chat syndrome.
A case of 45,X,del(5)(p14/45,X,t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.
D001132:Arm / Q000002:abnormalities; D002675:Child, Preschool; D002905:Chromosomes, Human, 4-5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D009030:Mosaicism; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014998:Y Chromosome