Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication

被引：2
|
作者：
Badar, Sidrah A. [1 ]
Breman, Amy M. [2 ]
Christensen, Celanie K. [1 ,3 ]
Graham, Brett H. [2 ]
Golomb, Meredith R. [1 ]
机构：
[1] Indiana Univ Sch Med, Div Child Neurol, Dept Neurol, Indianapolis, IN 46204 USA
[2] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA
[3] Indiana Univ Sch Med, Div Dev Med, Dept Pediat, Indianapolis, IN 46204 USA
来源：
CYTOGENETIC AND GENOME RESEARCH | 2022年 / 162卷 / 1-2期
关键词：
16p11; 2; triplication; CNVs; Biparental inheritance; Developmental delay; MICRODELETION;
D O I：
10.1159/000521297
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
The 16p11.2 duplication is a well-known cause of developmental delay and autism, but there are only 2 previously reported cases of 16p11.2 triplication. Both of the previously reported cases exhibited tandem triplication on a 16p11.2 duplication inherited from 1 parent. We report fraternal twins presenting with developmental delay and 16p11.2 triplication resulting from inheritance of a 16p11.2 duplicated homolog from each parent. This report also reviews the overlapping features in previously published cases of 16p11.2 triplication, and possible implications are discussed.
引用
收藏
页码：40 / 45
页数：6
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