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2号染色体（p11 - p13）缺失：病例报告与文献复习

Deletion of chromosome 2 (p11-p13): case report and review.

作者信息

Prasher V P, Krishnan V H, Clarke D J, Maliszewska C T, Corbett J A

机构信息

Department of Psychiatry, Birmingham University, Queen Elizabeth Psychiatric Hospital, Edgbaston, UK.

出版信息

J Med Genet. 1993 Jul;30(7):604-6. doi: 10.1136/jmg.30.7.604.

DOI:10.1136/jmg.30.7.604
PMID:8411037
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016464/
Abstract

The case of a young man with del(2) (p11.2p13) is reported. Accounts of previous cases of deletion of the short arm of chromosome 2 are reviewed. Common features include mental retardation, proportional short stature and weight, dysmorphic facial features (a prominent nose, abnormal ears), and abnormal hands. Growth and developmental delay are present during the postnatal period.

摘要

报告了一例患有del(2)(p11.2p13)的年轻男性病例。回顾了先前关于2号染色体短臂缺失病例的报道。常见特征包括智力迟钝、身材和体重比例矮小、面部畸形特征（鼻梁突出、耳朵异常）以及手部异常。出生后存在生长和发育迟缓。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1849/1016464/c53b7bed4260/jmedgene00009-0071-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1849/1016464/da8301b8b789/jmedgene00009-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1849/1016464/0660a7a7e2e8/jmedgene00009-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1849/1016464/797c11ca1e20/jmedgene00009-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1849/1016464/c53b7bed4260/jmedgene00009-0071-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1849/1016464/da8301b8b789/jmedgene00009-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1849/1016464/0660a7a7e2e8/jmedgene00009-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1849/1016464/797c11ca1e20/jmedgene00009-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1849/1016464/c53b7bed4260/jmedgene00009-0071-b.jpg

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Anomalous cerebral venous drainage in Aarskog syndrome.阿斯克格综合征中的异常脑静脉引流。
Clin Genet. 1984 Mar;25(3):288-94. doi: 10.1111/j.1399-0004.1984.tb01991.x.
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Autosomal dominant inheritance of the Aarskog syndrome.
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一名患有多指（趾）畸形、面部畸形、智力发育迟缓及行为障碍患者的多重易位事件，通过分子细胞遗传学进行全面表征。病例报告及文献综述。
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