一名患有9号染色体q臂重复的畸形女孩。
A malformed girl with duplication of chromosome 9q.
作者信息
Nakahori Y, Nakagome Y
出版信息
J Med Genet. 1984 Oct;21(5):387-8. doi: 10.1136/jmg.21.5.387.
Abstract
A case of a 1 year old girl with a duplication of the long arm of chromosome 9 is described: 46,XX,dir dup(9)(q12----q32). The clinical features of the child are strikingly similar to those of the two cases reported by Turleau et al and Faed et al. The similarity of the abnormalities may help in recognising this syndrome by its characteristic dysmorphic features.
摘要
本文描述了一名1岁女童，其9号染色体长臂存在重复：46,XX,dir dup(9)(q12----q32)。该患儿的临床特征与Turleau等人和Faed等人报道的两例病例极为相似。这些异常情况的相似性可能有助于通过其特征性的畸形特征来识别这种综合征。
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