American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

被引：97

作者：

Shaffer, LG ^{[1
]}

机构：

[1] Washington State Univ, Hlth Res & Educ Ctr, Spokane, WA 99201 USA

[2] Amer Coll Med Genet, Bethesda, MD 20814 USA

来源：

GENETICS IN MEDICINE | 2005年 / 7卷 / 09期

关键词：

mental retardation; developmental delay; cytogenetic analysis; karyotype; chromosomes;

D O I：

10.1097/01.gim.0000186545.83160.1e

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：650 / 654

页数：5

共 58 条

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