Addendum to: Genetics in Medicine7:650–654 (2005); https://doi.org/10.1097/01.gim.0000186545.83160.1e, published online 01 November 2005
This document was retired by the ACMG Board of Directors as of 18 May 2020 with the following addendum:
Due to technological advances in the field of cytogenetics, and their resultant impact on the practice of clinical genetics since publication of this guideline, this document has been retired. Guidance from the ACMG regarding current application of cytogenetic technologies, including chromosome microarray (CMA) in the clinical genetic evaluation of individuals with developmental delay, intellectual disability, or autism spectrum disorders, is available.
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References
- Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.1:CAS:528:DC%2BC3cXhsVWhurrN10.1097/GIM.0b013e3181f8baadGenet Med. 2010; 12: 742-745
- Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.1:CAS:528:DC%2BC3sXnt12ktrc%3D10.1038/gim.2013.32Genet Med. 2013; 15: 399-407
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Accepted:
June 11,
2020
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June 11,
2020
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- American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardationGenetics in MedicineVol. 7Issue 9
- PreviewThe 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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