Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications-Reference-Cited by-同舟云学术

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Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications

Published:2013-12-05 Issue:2 Volume:164 Page:535-541
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Batanian Jacqueline R.¹²,Braddock Stephen R.²³,Christensen Katherine²³,Knutsen Alan P.²⁴

Affiliation:

1. Division of Molecular Cytogenetics Laboratory; Saint Louis University Medical Center; St. Louis Missouri

2. Department of Pediatrics; Saint Louis University Medical Center; St. Louis Missouri

3. Division of Medical Genetics; Saint Louis University Medical Center; St. Louis Missouri

4. Division of Allergy and Immunology; Saint Louis University Medical Center; St. Louis Missouri

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36305/fullpdf

Reference31 articles.

1. Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20;Ardalan;Am J Med Genet Part A,2005

2. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity;Bachmann-Gagescu;Genet Med,2010

3. De novo trisomy 20p of paternal origin;Chaabouni;Am J Med Genet Part A,2007

4. Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion;D'Angelo;Am J Med Genet Part A,2010

5. De novo interstitial tandem duplication of chromosome 20p12.1p13;de Ravel;Am J Med Genet,2003

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Short report: Twins with 20p13 duplication. Case report and comprehensive literature review;Molecular Genetics & Genomic Medicine;2024-05

2. Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies;Case Reports in Genetics;2020-07-11

3. Primary immunodeficiency associated with chromosomal aberration – an ESID survey;Orphanet Journal of Rare Diseases;2016-08-02

4. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities;JAMA Psychiatry;2016-01-01

5. Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy;American Journal of Medical Genetics Part A;2015-04-02

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