Annals of Laboratory Medicine  2012;32(1):91-94

doi:10.3343/alm.2012.32.1.91

A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion.

Jeong Eun KANG 1 ; Mi Young PARK ; Chong Kun CHEON ; Hyoung Doo LEE ; Sang Hyun HWANG ; Jongyoun YI

Affiliations

+expand

Keywords

Trisomy 20p; Recombinant chromosome; Chromosome inversion; Congenital disorders

Country

Republic of Korea

Language

English

Abstract

Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is the 4th report in the world and the 1st one in Korea of a patient with rec(20)dup(20p).