Tandem duplication of chromosome 14 (q24 leads to q32) in male newborn with congenital malformations

Abstract

A tandem duplication of 14q24 leads to q32, estimated by G- and R-banding, was found in a male newborn with growth retardation and congenital malformations. His clinical picture is compared with that of three patients from the literature with partial trisomy for a similar segment of 14q due to a parental reciprocal translocation or a de novo translocation.