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

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.

Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical course of the disease – case report and literature review

“…The outcome was unexpected as tests for myodystrophy turned out to be negative, but simultaneously the diagnosis of DiGeorge syndrome was established. This is one of many cases of patients who were diagnosed in their teenage or adult years due to mild-ness and non-specificity of the symptoms [1][2][3][4]. According to the patient's past medical history, there were many signs and symptoms that could have led to an earlier testing, but they were mild and unclear.…”