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).

De novo trisomy 20p characterized by array comparative genomic hybridization: Report of a novel case and review of the literature

“…Except for a few cases of de novo trisomy 20p associated to a small distal 20q deletion (Chaabouni et al, 2007) or pure chromosomal duplication as a product of isochromosome 20 formation (Sidwell et al, 2000), most cases of trisomy 20p derived from parental reciprocal translocations (Lurie et al, 1985;Oppenheimer et al, 2000;Thomas et al, 2004); in some cases the 20p duplication originated from parental inversions (Bown et al, 1986;Kang et al, 2012;Lucas et al, 1985;Molina-Gomes et al, 2006).…”

Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence

“…Partial trisomy 20p is a rare chromosomal aberration that in most cases is due to a parental translocation [Grammatico et al, 1992;Oppenheimer et al, 2000] or inversion [Bown et al, 1986;Kang et al, 2012], but can also occur de novo [Faivre et al, 2000;Bartolini et al, 2013]. In most cases, the patient carries an unbalanced translocation leading to partial trisomy 20p and monosomy of another chromosome.…”

De Novo Pure Trisomy 20p: Report of a Novel Case of a Marker Chromosome and Literature Review

“…Severity of the symptom depends on chromosome 20p duplication size; larger chromosomal duplications usually result in more serious symptoms [1]. Most previously reported cases involved partial trisomy 20p derived from a parental reciprocal translocation, chromosome inversion, or a small supernumerary marker chromosome (sSMC) [1][2][3][4][5]. However, only a few cases of pure trisomy 20p (involving whole short arm of chromosome 20) have been reported [1,[5][6][7][8][9].…”