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

Author:

Oyetunji Aderonke12,Butler Merlin G.2

Affiliation:

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

Abstract

AbstractWe 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.

Publisher

Georg Thieme Verlag KG

Subject

Genetics(clinical),Pediatrics, Perinatology, and Child Health

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