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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.

DOI:10.1136/jmg.31.2.156
PMID:8182726
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049682/
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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a35/1049682/a79f5c7dc1b2/jmedgene00281-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a35/1049682/bfd33564a34b/jmedgene00281-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a35/1049682/a79f5c7dc1b2/jmedgene00281-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a35/1049682/bfd33564a34b/jmedgene00281-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a35/1049682/a79f5c7dc1b2/jmedgene00281-0074-a.jpg

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本文引用的文献

1
De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome.9号染色体长臂的新发间质性缺失：一种新的染色体综合征。
J Med Genet. 1982 Feb;19(1):68-70. doi: 10.1136/jmg.19.1.68.
2
Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature review.9q22q34缺失的患者未明确一种综合征：三例病例报告及文献综述
Clin Genet. 1991 Sep;40(3):207-14. doi: 10.1111/j.1399-0004.1991.tb03078.x.
9q22 Deletion--first familial case.
9q22 缺失——首例家族病例。
Orphanet J Rare Dis. 2011 Jun 22;6:45. doi: 10.1186/1750-1172-6-45.
4
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.B型短指症：与9号染色体q22区域的连锁关系及遗传异质性证据
Am J Hum Genet. 1999 Feb;64(2):578-85. doi: 10.1086/302255.