| Literature DB >> 1576754 |
Y Horigome1, I Kondo, K Kuwajima, T Suzuki.
Abstract
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.Entities:
Mesh:
Year: 1992 PMID: 1576754 DOI: 10.1111/j.1399-0004.1992.tb03659.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438