另1例9号染色体间质性缺失患者：病例报告及6例9号染色体长臂2区2带至3区2带缺失（del(9)(q22q32)）病例的文献复习
Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32).
作者信息
Kroes H Y, Tuerlings J H, Hordijk R, Folkers N R, ten Kate L P
机构信息
Department of Medical Genetics, University of Groningen, The Netherlands.
出版信息
J Med Genet. 1994 Feb;31(2):156-8. doi: 10.1136/jmg.31.2.156.
Abstract
We report a case of del(9)(q22q32) in a severely mentally retarded boy. The most prominent clinical features are short stature, microcephaly, dysmorphic facies, and delayed bone age. Although six cases of this deletion have now been reported, confirmation of a definite syndrome is not yet possible.
摘要
我们报告了一例患有9号染色体长臂2区2带至3区2带缺失（del(9)(q22q32)）的重度智力发育迟缓男孩。最显著的临床特征为身材矮小、小头畸形、面部畸形以及骨龄延迟。尽管目前已报告了6例这种缺失病例，但仍无法确定其为一种明确的综合征。
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