Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

被引：104
|
作者：
del Gaudio, Daniela [1 ]
Shinawi, Marwan [2 ]
Astbury, Caroline [3 ]
Tayeh, Marwan K. [4 ]
Deak, Kristen L. [5 ]
Raca, Gordana [6 ]
机构：
[1] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
[2] Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA
[3] Cleveland Clin, Dept Pathol & Lab Med, Cleveland, OH 44106 USA
[4] Univ Michigan, Dept Pediat, Michigan Med Genet Labs, Ann Arbor, MI 48109 USA
[5] Duke Univ, Dept Pathol, Durham, NC 27706 USA
[6] Univ Southern Calif, Dept Pathol & Lab Med, Childrens Hosp Los Angeles, Keck Sch Med, Los Angeles, CA 90007 USA
[7] Amer Coll Med Genet & Genom, Bethesda, MD USA
来源：
GENETICS IN MEDICINE | 2020年 / 22卷 / 07期
关键词：
genomic imprinting; uniparental disomy; postnatal testing; prenatal testing; SILVER-RUSSELL-SYNDROME; PRADER-WILLI-SYNDROME; BECKWITH-WIEDEMANN; ROBERTSONIAN TRANSLOCATIONS; IMPRINTING DISORDER; PRENATAL DETECTION; SOMATIC MOSAICISM; TEMPLE SYNDROME; CHROMOSOME; 14; PATIENT;
D O I：
10.1038/s41436-020-0782-9
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：1133 / 1141
页数：9
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