Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion

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• 作者：Can Huang^a ; Yi-Feng Yang^a ; ^b ; Ni Yin^a ; Jin-Lan Chen^a ; Jian Wang^a ; ^b ; Hong Zhang^a ; Zhi-Ping Tan^a ; ^b ; ^{tanzhiping@gmail.com}
• 关键词：CNV ; copy number variation ; SNP ; single-nucleotide polymorphism ; CHD ; congenital heart defects ; Hg18 ; human genome ; VSD ; ventricular septal defect ; ASD ; arterial septal defect ; DGV ; Database of Genomic Variants ; TOF ; tetralogy of Fallot
• 刊名：Gene
• 出版年：2012
• 期刊代码：73_03781119
• 类别：bio
• 出版时间：1 May, 2012
• 卷：498
• 期：2
• 页码：308-310
• 文件大小：345 K

摘要

13q deletion syndrome is a rare genetic disorder caused by deletions of the long arm of chromosome 13. Patients with 13q deletion display a variety of phenotypic features. We describe a one-year-old female patient with congenital heart defects (CHD), facial anomalies, development and mental retardation. We identified a 12.75 Mb deletion in chromosome region 13q33.1-34 with high resolution SNP Array (Human660W-Quad, Illumina, USA). This chromosome region contains about 55 genes, including EFNB2, ERCC5, VGCNL1, F7, and F10. Comparing our findings with previously reported 13q deletion patients with congenital heart defects, we propose that the 13q33.1-34 deletion region might contain key gene(s) associated with cardiac development. Our study also identified a subclinical deficiency of Factors VII and X in our patient with Group 3 of 13q deletion syndrome.