Fragile X syndrome: diagnostic and carrier testing - PubMed (original) (raw)
Fragile X syndrome: diagnostic and carrier testing
Stephanie Sherman et al. Genet Med. 2005 Oct.
Abstract
This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline.
Comment in
- Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines.
Kronquist KE, Sherman SL, Spector EB. Kronquist KE, et al. Genet Med. 2008 Nov;10(11):845-7. doi: 10.1097/GIM.0b013e31818b0c8a. Genet Med. 2008. PMID: 18941415 Free PMC article. No abstract available.
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