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

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

1. Department of Laboratory Medicine, Pusan National University School of Medicine, Busan, Korea. csm410@naver.com
Publication Type:Case Reports
Keywords: Trisomy 20p; Recombinant chromosome; Chromosome inversion; Congenital disorders
MeSH: Abnormalities, Multiple/genetics; Adult; *Chromosome Inversion; *Chromosomes, Human, Pair 20; Female; Humans; Infant, Newborn; Phenotype; *Recombination, Genetic; *Trisomy
From:Annals of Laboratory Medicine 2012;32(1):91-94
CountryRepublic 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).