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 11 条

[1] Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome [J].

Bamshad, M ;

Lin, RC ;

Law, DJ ;

Watkins, WS ;

Krakowiak, PA ;

Moore, ME ;

Franceschini, P ;

Lala, R ;

Holmes, LB ;

Gebuhr, TC ;

Bruneau, BG ;

Schinzel, A ;

Seidman, JG ;

Seidman, CE ;

Jorde, LB .

NATURE GENETICS, 1997, 16 (03) :311-315

[2] Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes [J].

Chen, Chih-Ping ;

Lin, Shuan-Pei ;

Su, Yi-Ning ;

Tsai, Fuu-Jen ;

Wu, Pei-Chen ;

Town, Dai-Dyi ;

Chen, Li-Feng ;

Lee, Meng-Shan ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2012, 51 (01) :93-99

[3] Unbalanced reciprocal translocations at amniocentesis [J].

Chen, Chih-Ping ;

Wu, Pei-Chen ;

Lin, Chen-Ju ;

Chern, Schu-Rern ;

Tsai, Fuu-Jen ;

Lee, Chen-Chi ;

Town, Dai-Dyi ;

Chen, Wen-Lin ;

Chen, Li-Feng ;

Lee, Meng-Shan ;

Pan, Chen-Wen ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2011, 50 (01) :48-57

[4] RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection [J].

Henneke, Marco ;

Diekmann, Simone ;

Ohlenbusch, Andreas ;

Kaiser, Jens ;

Engelbrecht, Volkher ;

Kohlschuetter, Alfried ;

Kraetzner, Ralph ;

Madruga-Garrido, Marcos ;

Mayer, Michele ;

Opitz, Lennart ;

Rodriguez, Diana ;

Rueschendorf, Franz ;

Schumacher, Johannes ;

Thiele, Holger ;

Thoms, Sven ;

Steinfeld, Robert ;

Nuernberg, Peter ;

Gaertner, Jutta .

NATURE GENETICS, 2009, 41 (07) :773-775

[5] Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation [J].

Hiroi, Y ;

Kudoh, S ;

Monzen, K ;

Ikeda, Y ;

Yazaki, Y ;

Nagai, R ;

Komuro, I .

NATURE GENETICS, 2001, 28 (03) :276-280

[6] Tbx3 controls the sinoatrial node gene program and imposes pacemaker function on the atria [J].

Hoogaars, Willem M. H. ;

Engel, Angela ;

Brons, Janynke F. ;

Verkerk, Arie O. ;

de Lange, Frederik J. ;

Wong, L. Y. Elaine ;

Bakker, Martijn L. ;

Clout, Danielle E. ;

Wakker, Vincent ;

Barnett, Phil ;

Ravesloot, Jan Hindrik ;

Moorman, Antoon F. M. ;

Verheijck, E. Etienne ;

Christoffels, Vincent M. .

GENES & DEVELOPMENT, 2007, 21 (09) :1098-1112

[7] ESTIMATES OF THE FREQUENCY OF CHROMOSOME-ABNORMALITIES DETECTABLE IN UNSELECTED NEWBORNS USING MODERATE LEVELS OF BANDING [J].

JACOBS, PA ;

BROWNE, C ;

GREGSON, N ;

JOYCE, C ;

WHITE, H .

JOURNAL OF MEDICAL GENETICS, 1992, 29 (02) :103-108

[8] Genomic Characterization of Prenatally Detected Chromosomal Structural Abnormalities Using Oligonucleotide Array Comparative Genomic Hybridization [J].

Li, Peining ;

Pomianowski, Pawel ;

DiMaio, Miriam S. ;

Florio, Joanne R. ;

Rossi, Michael R. ;

Xiang, Bixia ;

Xu, Fang ;

Yang, Hui ;

Geng, Qian ;

Xie, Jiansheng ;

Mahoney, Maurice J. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (07) :1605-1615

[9]

Li QY, 1997, NAT GENET, V15, P21

[10] Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries) [J].

Muncke, N ;

Jung, C ;

Rüdiger, H ;

Ulmer, H ;

Roeth, R ;

Hubert, A ;

Goldmuntz, E ;

Driscoll, D ;

Goodship, J ;

Schön, K ;

Rappold, G .

CIRCULATION, 2003, 108 (23) :2843-2850

← 1 2 →