Microdeletions/duplications involvingTBX1gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescencein-situhybridization-Reference-Cited by-同舟云学术

Microdeletions/duplications involvingTBX1gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescencein-situhybridization

Published:2013-12-26 Issue:4 Volume:43 Page:396-403
ISSN:0960-7692
Container-title:Ultrasound in Obstetrics & Gynecology
language:en
Short-container-title:Ultrasound Obstet Gynecol

Author:

Chen M.¹²³⁴⁵,Yang Y.-S.³,Shih J.-C.³,Lin W.-H.¹,Lee D.-J.¹,Lin Y.-S.⁶,Chou C.-H.³,Cameron A. D.⁷,Ginsberg N. A.⁸,Chen C.-A.³,Lee M.-L.⁹,Ma G.-C.¹¹⁰

Affiliation:

1. Department of Genomic Medicine; Changhua Christian Hospital; Changhua Taiwan

2. Department of Obstetrics and Gynecology; Changhua Christian Hospital; Changhua Taiwan

3. Department of Obstetrics and Gynecology; College of Medicine and Hospital, National Taiwan University; Taipei Taiwan

4. Department of Life Sciences; Tunghai University; Taichung Taiwan

5. Department of Obstetrics and Gynecology; Chung Shan Medical University; Taichung Taiwan

6. Welgene Biotechnology Company; Nangang Business Park; Taipei Taiwan

7. Ian Donald Foetal Medicine Unit; Southern General Hospital and University of Glasgow; Glasgow UK

8. Department of Obstetrics and Gynecology, Feinberg School of Medicine; Northwestern University; Chicago IL USA

9. Department of Pediatrics; Changhua Christian Hospital; Changhua Taiwan

10. Institute of Biochemistry and Biotechnology; Chung Shan Medical University; Taichung Taiwan

Publisher

Wiley

Subject

Obstetrics and Gynecology,Radiology, Nuclear Medicine and imaging,Reproductive Medicine,General Medicine,Radiological and Ultrasound Technology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/uog.12550/fullpdf

Reference41 articles.

1. Absent or hypoplastic thymus on ultrasound: a marker for del22q11.2 in fetal cardiac defects;Chaoui;Ultrasound Obstet Gynecol,2002

2. Conotruncal anomalies in fetal life: accuracy of diagnosis, associated defects and outcome;Galindo;Eur J Obstet Gynecol Reprod Biol,2009

3. Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch;Rauch;Am J Med Genet,1998

4. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome;Hassed;Clin Genet,2004

5. Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis;Shimojima;J Hum Genet,2011

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