Abstract |
We present prenatal diagnosis of de novo 22q11.2 microdeletion syndrome using uncultured amniocytes in a pregnancy with conotruncal heart malformations in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TBX1, COMT, UFD1L, GNB1L and MED15 in the deleted region. We review the literature of chromosomal loci and genes responsible for conotruncal heart malformations and tetralogy of Fallot.
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Authors | Chih-Ping Chen, Jian-Pei Huang, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Wen-Lin Chen, Wayseen Wang |
Journal | Gene
(Gene)
Vol. 527
Issue 1
Pg. 405-9
(Sep 15 2013)
ISSN: 1879-0038 [Electronic] Netherlands |
PMID | 23791650
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
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Copyright | Copyright © 2013 Elsevier B.V. All rights reserved. |
Topics |
- Abortion, Eugenic
- Amniocentesis
- Amniotic Fluid
(cytology)
- Comparative Genomic Hybridization
- DiGeorge Syndrome
(diagnostic imaging, genetics)
- Female
- Humans
- Pregnancy
- Ultrasonography
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