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Combined immunodeficiency in a 3‐year‐old boy with 16p11.2 and 20p12.2‐11.2 chromosomal duplications
Author(s) -
Batanian Jacqueline R.,
Braddock Stephen R.,
Christensen Katherine,
Knutsen Alan P.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36305
Subject(s) - trisomy , medicine , biology , genetics
We report for the first time on a 3‐year‐old boy with paternally inherited 212.85 kb—16p11.2 and 7.8 Mb—20p12.2‐11.23 interstitial microduplications associated with having congenital cardiac defect, dysmorphic facial features, and combined T‐, B‐, and NK cell immunodeficiency. In addition the 7.8 Mb—20p12.2‐11.23 microduplication is unique showing novel breakpoints among all partial trisomy/duplication 20p reported to date, narrowing down the critical region for trisomy 20p syndrome. © 2013 Wiley Periodicals, Inc.