Case report of unaffected male with int22h1/int22h2-mediated Xq28 duplication; expanding the phenotype and literature review

Int22h1/Int22h2-mediated Xq28 duplications are associated with intellectual disability of varying degree, neurobehavioural phenotypes and recurrent sinopulmonary infection atopy in affected males. Heterozygous females may have mild whereas, to date, all reported hemizygous males moderate-to-severe disability. We present the case a healthy, neurotypical adult man university education, who was ascertained following investigation his daughter’s multiple congenital anomalies. Both father daughter common 0.5Mb duplication between breakpoints 154124170 154555780 (GRCh37/hg19). discuss molecular this unexpected finding review literature well-described copy number variant (CNV).