Fragile X syndrome: Diagnostic and carrier testing

被引:186
作者
Sherman, S [1 ]
Pletcher, BA
Driscoll, DA
机构
[1] ACMG Profess Practice & Guidelines Committee, Atlanta, GA USA
[2] Emory Univ, Atlanta, GA 30322 USA
[3] Univ Med & Dent New Jersey, Newark, NJ 07103 USA
[4] Univ Penn, Med Ctr, Philadelphia, PA 19104 USA
[5] Amer Coll Med Genet, Bethesda, MD 20814 USA
关键词
fragile X syndrome; genetic testing; FMR1; X-linked mental retardation;
D O I
10.1097/01.GIM.0000182468.22666.dd
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 till 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.
引用
收藏
页码:584 / 587
页数:4
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