经全基因组单亲二倍体诊断为具有贝克威思-维德曼综合征特征的婴儿病例报告。
Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy.
作者信息
Reed Jennifer A, Crotwell Patricia L, Stein Quinn, Mroch Amy, Davis-Keppen Laura, Khan Akram
机构信息
University of South Dakota Sanford School of Medicine.
Sanford Health, Sioux Falls, South Dakota.
出版信息
S D Med. 2017 Nov;70(11):505-509.
PMID:29088522
Abstract
Uniparental disomy (UPD), where two copies of genetic material are from one parent, and none from the other, is a familiar cause of imprinting. We present a premature infant with organomegaly and congenital hyperinsulinism found to have complete UPD of paternal origin as determined by Mendelian inheritance error analysis.
摘要
单亲二体性（UPD）是一种常见的印记成因，即两份遗传物质均来自一方父母，另一方父母则无。我们报告一例患有器官肿大和先天性高胰岛素血症的早产儿，经孟德尔遗传错误分析确定其为父源完全性单亲二体性。
Zotero 插件