American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
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DOI：
10.1097/01.gim.0000186545.83160.1e
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发表时间：
2005-11-01
影响因子：
8.8
通讯作者：
Shaffer, LG
中科院分区：
文献类型：
--
作者：
Shaffer, LG
以下是美国医学遗传学学院（ACMG）专业实践和指导委员会的建议，该委员会的召开是为了帮助卫生保健专业人员就智力迟钝（MR）和发育迟缓（DD）的细胞遗传学诊断测试和咨询做出决定。本文回顾了常规和分子细胞遗传学检测在鉴别MR/DD病因中起作用的染色体异常方面的价值，并根据这些证据，对每种检测方法提出了具体建议。
The following are the recommendations of the American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee, which was convened to assist health care professionals in making decisions regarding cytogenetic diagnostic testing and counseling for mental retardation (MR) and developmental delay (DD). This document reviews available evidence concerning the value of conventional and molecular cytogenetic testing for the identification of chromosomal anomalies that play a role in the etiology of MR/DD, and, based on this evidence, specific recommendations for each method of testing are provided.