22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring-Reference-Cited by-同舟云学术

22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring

Published:2017-02-11 Issue:3 Volume:5 Page:351-356
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Nguyen Linda T.¹,Fleishman Rachel¹^ORCID,Flynn Emilee¹,Prasad Rajeev²,Moulick Achintya²,Mesia Cesar Igor¹,Moyer Sue²,Jethva Reena³

Affiliation:

1. Department of Pediatrics; Drexel University College of Medicine; St. Christopher's Hospital for Children; Philadelphia Pennsylvania USA

2. Department of Medical Genetics and Surgery; Drexel University College of Medicine; St. Christopher's Hospital for Children; Philadelphia Pennsylvania USA

3. Department of Medical Genetics and Genomic Medicine; Saint Peter's University Hospital; New Brunswisk New Jersey USA

Publisher

Wiley

Subject

General Medicine

Reference35 articles.

1. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies;La Rochebrochard;Am. J. Med. Genet. A,2006

2. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients;Ensenauer;Am. J. Hum. Genet.,2003

3. Association of syndromic mental retardation and autism with 22q11.2 duplication;Lo-Castro;Neuropedaitrics,2009

4. Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication;Yu;Clin. Genet.,2008

5. Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood;Van Camperhout;Genet. Couns.,2012

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3. Esophageal Atresia With or Without Tracheoesophageal Fistula: Comorbidities, Genetic Evaluations, and Neonatal Outcomes;Cureus;2023-02-08

4. Çoklu Konjenital Anomali Vakası: Parsiyel Trizomi 14 ve Parsiyel Trizomi 22;Turkish Journal of Pediatric Disease;2022-11-30

5. Phenotypic Overlap of 22q11.2 Microduplication and Noonan Syndrome in a Fetus with Increased NT, Facial Dysmorphism, and Narrow Pulmonary Trunk;Journal of Fetal Medicine;2022-06