Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother-Reference-Cited by-同舟云学术

Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother

Published:2021-01 Issue:1 Volume:60 Page:165-168
ISSN:1028-4559
Container-title:Taiwanese Journal of Obstetrics and Gynecology
language:en
Short-container-title:Taiwanese Journal of Obstetrics and Gynecology

Author:

Chen Chih-Ping,Chen Chen-Yu,Chern Schu-Rern,Wu Peih-Shan,Chen Shin-Wen,Wu Fang-Tzu,Wang Wayseen

Funder

Mackay Memorial Hospital

Ministry of Science and Technology, Taiwan

Publisher

Elsevier BV

Subject

Obstetrics and Gynaecology

Reference34 articles.

1. The 22q11 deletion syndromes;Scambler;Hum Mol Genet,2000

2. Chromosome 22q11.2 microdeletion syndrome;Molesky;Neonatal Netw,2011

3. Genomic disorders on chromosome 22;Yu;Curr Opin Pediatr,2012

4. 22q11.2 deletion syndrome;McDonald-McGinn,1993

5. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome;Scambler;Genomics,1991

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1. Application of array comparative genomic hybridization on the DNA extracted from cultured amniocytes for rapid diagnosis of 22q11.2 microdeletion in a pregnancy with a normal karyotype at amniocentesis and double outlet right ventricle and transposition of great arteries on level II ultrasound;Taiwanese Journal of Obstetrics and Gynecology;2024-07

2. DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis;JCEM Case Reports;2024-06-27

3. Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus;BMJ Case Reports;2022-05

4. Isolated Persistent Left Superior Vena Cava Associated With Autosomal Dominant Polycystic Kidney Disease (ADPKD): Challenges and Clinical Significance;Cureus;2022-03-06