title: A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion.
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).
authors.affiliation: Department of Laboratory Medicine, Pusan National University School of Medicine, Busan, Korea.
authors.forename: Jeong-Eun
authors.initials: JE
authors.lastname: Kang
authors.forename: Mi Young
authors.initials: MY
authors.lastname: Park
authors.forename: Chong Kun
authors.initials: CK
authors.lastname: Cheon
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Lee
authors.forename: Sang-Hyun
authors.initials: SH
authors.lastname: Hwang
authors.forename: Jongyoun
authors.initials: J
authors.lastname: Yi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D007446:Chromosome Inversion; D002890:Chromosomes, Human, Pair 20; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D011995:Recombination, Genetic; D014314:Trisomy