Partial trisomy of 15q due to inserted inverted duplication

Abstract

A de novo abnormal chromosome 15, with an inverted duplication of the segment (15q13.3-->15q21.3) at 15q24.3, was found in a boy with mild developmental delay, facial dysmorphism, Marfan-like appearance and severe language delay. There is an unusual disparity between the severe lack of speech and the presence of reasonable skills in other areas.