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J Pediatr Genet 2020; 09(03): 211-220
DOI: 10.1055/s-0039-1700980
Case Report
Georg Thieme Verlag KG Stuttgart · New York

22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature

Aderonke Oyetunji
1   Department of Child Psychiatry, Truman Medical Centers, Kansas City, Missouri, United States
2   Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, United States
,
Merlin G. Butler
2   Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, United States
› Author Affiliations
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Publication History

18 September 2019

02 December 2019

Publication Date:
10 January 2020 (online)

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Abstract

We present two male subjects (6 and 14 years old) with mild dysmorphism, intellectual disability, and/or autism spectrum disorder with chromosome 22q11.2 microduplications of different sizes. We then compared the clinical and genetic findings with similar cases from the literature sharing the same 22q11.2 duplications. These rare duplications in our subjects were identified by high-resolution chromosomal microarray analysis and flanked by low copy repeats in the 22q11.2 region, specifically LCR22A, LCR22B, and LCR22D. The typical 22q11.2 defect generally involves a deletion at breakpoints LCR22A and LCR22D causing DiGeorge or velo-cardio-facial syndrome and not duplications of varying sizes as seen in our male subjects.

Keywords

22q11.2 microduplications - low copy repeats - 22q11.2 breakpoints at LCR22A, B, C, or D - literature reports
 

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