Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21 → qter) and partial monosomy 6q (6q27 → qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold

被引：11

作者：

Chen, Chih-Ping ^{[1
,2
,3
,4
,5
,6
,7
]}

Chen, Yi-Yung ^{[1
]}

Chern, Schu-Rern ^{[2
]}

Wu, Peih-Shan ^{[8
]}

Su, Jun-Wei ^{[1
,9
]}

Chen, Yu-Ting ^{[2
]}

Chen, Li-Feng ^{[1
]}

Wang, Wayseen ^{[2
,10
]}

机构：

[1] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan

[2] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan

[3] Mackay Med Coll, Dept Med, New Taipei City, Taiwan

[4] Asia Univ, Dept Biotechnol, Taichung, Taiwan

[5] China Med Univ, Sch Chinese Med, Coll Chinese Med, Taichung, Taiwan

[6] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan

[7] Natl Yang Ming Univ, Sch Med, Dept Obstet & Gynecol, Taipei 112, Taiwan

[8] Gene Biodesign Co Ltd, Taipei, Taiwan

[9] China Med Univ Hosp, Dept Obstet & Gynecol, Taichung, Taiwan

[10] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan

来源：

GENE | 2013年 / 516卷 / 01期

关键词：

Coarctation of the aorta; MED13L; RNASET2; TBX3; TBX5; Ventriculomegaly; COMPARATIVE GENOMIC HYBRIDIZATION; HEART DEFECT; GENE; MUTATIONS; TBX5;

D O I：

10.1016/j.gene.2012.12.051

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present rapid aneuploidy diagnosis of de novo partial trisomy 12q (12q2421 -> qter) and partial monosomy 6q (6q27 -> qter) by aCGH using uncultured amniocytes in a fetus with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. We discuss the association of 173X3, 773X5 and MED13L gene duplication with coarctaton of the aorta, and the association of RNASET2 gene haploinsufficiency with ventriculomegaly in this case. (c) 2012 Elsevier B.V. All rights reserved.

引用

页码：138 / 142

页数：5

共 48 条

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