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
