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1993年美国人类遗传学会辅助会议“4号染色体短臂综合征与基因的近期研究”总结

Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes".

作者信息

Estabrooks L L, Breg W R, Hayden M R, Ledbetter D H, Myers R M, Wyandt H E, Yang-Feng T L, Hirschhorn K

机构信息

SmithKline Beecham Clinical Laboratories, Van Nuys, California, USA.

出版信息

Am J Med Genet. 1995 Feb 13;55(4):453-8. doi: 10.1002/ajmg.1320550412.

Abstract

The following is a summary of presentations given during an ancillary meeting to the 1993 American Society of Human Genetics Meeting in New Orleans, LA. This ancillary meeting, entitled "Recent Research on Chromosome 4p Syndromes and Genes," reviewed the history of the Wolf-Hirschhorn syndrome (WHS), the natural history of patients with WHS, and the smallest region of deletion associated with the WHS. The proximal 4p deletion syndrome and the duplication 4p syndrome were also described and advice was offered regarding detection of chromosome 4p deletions, duplications, and rearrangements. The current status of the physical map of chromosome 4p with emphasis on the genes that map to the 4p16 region was presented along with a preliminary phenotypic map of 4p16. The goal of this format was to provide a comprehensive review of the clinical presentations, diagnostic capabilities, and genetic mapping advances involving chromosome 4p.

摘要

以下是在路易斯安那州新奥尔良市举行的1993年美国人类遗传学会会议的一次附属会议上所做报告的总结。这次附属会议名为“4号染色体短臂综合征与基因的最新研究”,回顾了沃尔夫-赫希霍恩综合征(WHS)的历史、WHS患者的自然病史以及与WHS相关的最小缺失区域。还描述了近端4号染色体短臂缺失综合征和4号染色体短臂重复综合征,并就4号染色体短臂缺失、重复和重排的检测提供了建议。介绍了4号染色体短臂物理图谱的现状,重点是定位到4p16区域的基因,以及4p16的初步表型图谱。这种形式的目的是全面回顾涉及4号染色体短臂的临床表现、诊断能力和基因图谱进展。

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