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

Abstract

Int22h1/Int22h2-mediated Xq28 duplications are associated with intellectual disability of varying degree, neurobehavioural phenotypes and recurrent sinopulmonary infection and atopy in affected males. Heterozygous females may have mild intellectual disability whereas, to date, all reported hemizygous males have moderate-to-severe intellectual disability.