一名患有21号染色体单体型的男婴。
A male infant with monosomy 21.
作者信息
Kaneko Y, Ikeuchi T, Sasaki M, Stakae Y, Kuwajima S
出版信息
Humangenetik. 1975 Aug 29;29(1):1-7. doi: 10.1007/BF00273344.
PMID:1176129
Abstract
A male infant with total monosomy 21 identified by Q-, G- and R-banding is described. His main symptoms are hypertonia, micrognathia, microphthalmus, imperforate anus, ambiguous external genitalia, floating and malopposed thumbs, overlying fingers, right clubfoot and growth retardation. Both parents are phenotypically as well as karotypically normal.
摘要
本文描述了一名通过Q、G和R显带鉴定为21号染色体完全单体的男婴。他的主要症状包括肌张力亢进、小颌畸形、小眼畸形、肛门闭锁、外生殖器模糊、拇指漂浮且对掌不良、手指重叠、右足内翻和生长发育迟缓。父母双方在表型和核型上均正常。
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