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Article

A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion.

Annals of laboratory medicine - 1 Jan 2012

Kang Jeong-Eun, Park Mi Young, Cheon Chong Kun, Lee Hyoung Doo, Hwang Sang-Hyun, Yi Jongyoun

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22259786
DOI: 10.3343/alm.2012.32.1.91
PMCID: PMC3255494

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Source receipt: pubmed, retrieved 7 Sept 2026.

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A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion.PMID 22259786Read ↗

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Relatives with opposite chromosome constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a familial pericentric inversion.Semantic proximity Read ↗

Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis.Semantic proximity Read ↗

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