Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype

Abstract

In this report we describe a 3-year-old boy with partial trisomy of the short arm of chromosome 2 due to a de novo tandem duplication 2(dup(2)(p13----p21)). In addition to severe growth retardation and moderate psychomotor delay he presented a dysmorphic syndrome compatible with the clinical diagnostic of Aarskog syndrome.