Horigome Y, Kondo I, Kuwajima K, Suzuki T
Department of Pediatrics, Hitachi Taga Hospital, Ibaraki, Japan.
Clin Genet. 1992 Apr;41(4):178-80. doi: 10.1111/j.1399-0004.1992.tb03659.x.
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.
我们报告了一个患有15号环状染色体(r(15))综合征的2岁婴儿及其母亲的病例。二者均有既往r(15)综合征病例所报道的常见临床表现,包括严重身材矮小、小头畸形、三角脸和轻度智力发育迟缓。该家庭还有一个正常的儿子。虽然患有r(15)综合征的男性通常似乎不育,但女性r(15)患者可能具有生育能力,且其生育能力可能会受到严重生长发育迟缓的影响。