Journal
GENETICS IN MEDICINE
Volume 7, Issue 9, Pages 650-654Publisher
NATURE PUBLISHING GROUP
DOI: 10.1097/01.gim.0000186545.83160.1e
Keywords
mental retardation; developmental delay; cytogenetic analysis; karyotype; chromosomes
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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.
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