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

[41] De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: Prenatal diagnosis and molecular cytogenetic characterization
Chen, Chih-Ping
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[42] Prenatal Diagnosis of Partial Trisomy 3p (3p21→pter) and Partial Monosomy 11q (11q23→qter) Associated with Abnormal Sonographic Findings of Holoprosencephaly, Orofacial Clefts, Pyelectasis and a Unilateral Duplex Renal System
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[43] Report Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result
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[44] An unusual de novo, derivative/recombinant (14) from a likely germ line rearrangement,t(12;14), contributing to a partial trisomy 14q32.2→A4qter.
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AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 294 - 294
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[48] Prenatal diagnosis and molecular cytogenetic characterization of a de novo deletion of 4q34.1/qter associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening, congenital heart defect on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result
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