Familial occurrence of ring chromosome 15.
We present a family with the ring 15 chromosome (r(15)) syndrome in a 2-year-old infant and his mother. Both had the common clinical manifestations reported in previous cases with r(15), including severe short stature, microcephaly, triangular face, and mild mental retardation. The family also had a normal son. Although males with r(15) syndrome usually seem to be infertile, female r(15) patients are likely to be fertile and their reproductivity may be influenced by severe growth retardation.
Horigome
Y
Y
Department of Pediatrics, Hitachi Taga Hospital, Ibaraki, Japan.
Kondo
I
I
Kuwajima
K
K
Suzuki
T
T
D000328:Adult; D002884:Chromosomes, Human, Pair 15; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012098:Reproduction / Q000235:genetics*; D012303:Ring Chromosomes; D013577:Syndrome