Familial 5p- syndrome.
This report concerns a mother and son with a small terminal deletion of the short arm of chromosome 5 (del(5)(qter----p15.1:). Both mother and son had superficial resemblance to patients with classical Cri-du-Chat Syndrome, but lacked the severe mental and growth retardation generally associated with such cases.
D000328:Adult; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male