一名身心发育迟缓男孩的部分1p单体性
Partial 1p monosomy in a physically and mentally retarded boy.
作者信息
Gencík A, Gencíkova A
机构信息
Department of Research, University Clinics, Cantonal Hospital, Basel, Switzerland.
出版信息
J Genet Hum. 1987 Aug;35(4):309-15.
PMID:2958604
Abstract
An 8-year-old boy is reported with marked mental and physical retardation, microcephaly, hypertelorism, mongoloid palpebral fissures, hypoplasia of the maxillary portion of the face, and other discrete anomalies. Deletion of the distal portion of the short arm of the chromosome 1 and the karyotype 46,XY, del(1)(p33----pter) was detected.
摘要
据报道，一名8岁男孩有明显的智力和身体发育迟缓、小头畸形、眼距过宽、蒙古样睑裂、面部上颌部分发育不全以及其他离散性异常。检测到1号染色体短臂远端缺失，核型为46,XY, del(1)(p33----pter)。
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