22q11.2 duplications: Expanding the clinical presentation-Reference-Cited by-同舟云学术

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22q11.2 duplications: Expanding the clinical presentation

Published:2021-11-29 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Bartik Lauren E.¹²^ORCID,Hughes Susan S.¹²,Tracy Meghan³,Feldt M. Max⁴^ORCID,Zhang Lei²⁵,Arganbright Jill²⁶,Kaye Alison²³^ORCID

Affiliation:

1. Division of Clinical Genetics Children's Mercy Hospital Kansas City Missouri USA

2. University of Missouri‐Kansas City School of Medicine Kansas City Missouri USA

3. Division of Plastic Surgery Children's Mercy Hospital Kansas City Missouri USA

4. Division of Pediatric Endocrinology Children's Mercy Hospital Kansas City Missouri USA

5. Department of Pathology and Laboratory Medicine Children's Mercy Hospital Kansas City Missouri USA

6. Division of Pediatric Otolaryngology Children's Mercy Hospital Kansas City Missouri USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62577

Reference25 articles.

1. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features

2. Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

3. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

4. Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—report of two families;Courtens W.;American Journal of Medical Genetics. Part A,2008

5. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

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1. Prenatal diagnosis and genetic study of 22q11.2 microduplication in Chinese fetuses: A series of 31 cases and literature review;Molecular Genetics & Genomic Medicine;2024-07

2. Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array;Journal of Personalized Medicine;2024-03-08

3. Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors;Genes;2024-02-29

4. Chromosomal Abnormalities Associated with Congenital Heart Disease;Pediatric Cardiology and Cardiac Surgery;2024-02-29

5. A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening;Case Reports in Genetics;2023-11-20

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