Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution

被引：4

作者：

Chu, Caleb ^{[1
]}

Wu, Haotian ^{[2
]}

Xu, Fangling ^{[2
]}

Ray, Joseph W. ^{[3
]}

Britt, Allison ^{[3
]}

Robinson, Sally S. ^{[3
]}

Lupo, Pamela J. ^{[3
]}

Murphy, Christine R. C. ^{[3
]}

Dreyer, Charles F. ^{[3
]}

Lee, Phillip D. K. ^{[3
]}

Hu, Peter C. ^{[1
]}

Dong, Jianli ^{[2
]}

机构：

[1] Univ Texas MD Anderson Canc Ctr, Sch Hlth Profess, Houston, TX USA

[2] Univ Texas Med Branch, Dept Pathol, Galveston, TX 77555 USA

[3] Univ Texas Med Branch, Dept Pediat, Galveston, TX 77555 USA

来源：

LABORATORY MEDICINE | 2020年 / 51卷 / 06期

关键词：

chromosome; 16p11.2; copy number variation; chromosome microarray; genotype-phenotype correlation; developmental delay; phenotypic heterogeneity; GENE; MICRODELETION; DELETIONS;

D O I：

10.1093/labmed/lmaa026

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Chromosome 16p11.2 is one of the susceptible sites for recurrent copy number variations (CNVs) due to flanking near-identical segmental duplications. Five segmental duplications, named breakpoints 1 to 5 (BP1-BP5), have been defined as recombination hotspots within 16p11.2. Common CNVs on 16p11.2 include a proximal similar to 593 kb between BP4 and BP5, and a distal similar to 220 kb between BP2 and BPS. We performed a search for patients carrying 16p11.2 CNVs, as detected using chromosome microarray (CMA), in the Molecular Diagnostic Laboratory at the University of Texas Medical Branch (UTMB), in Galveston. From March 2013 through April 2018, a total of 1200 CMA results were generated for germline testing, and 14 patients tested positive for 16p11.2 CNVs, of whom 7 had proximal deletion, 2 had distal deletion, 4 had proximal duplication, and 1 had distal duplication. Herein, we provide detailed phenotype data for these patients. Our study results show that developmental delay, abnormal body weight, behavioral problems, and hypotonia are common phenotypes associated with 16p11.2 CNVs.

引用

页码：642 / 648

页数：7

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