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Uniparental Origin of Sex Chromosome Polysomies


Lorda-Sanchez, Isabel; Binkert, Franz; Hinkel, Klaus Georg; Moser, Hans; Rosenkranz, Walter; Maechler, Marco; Schinzel, Albert (1992). Uniparental Origin of Sex Chromosome Polysomies. Human Heredity, 42(3):193-197.

Abstract

The parental origin of the additional sex chromosomes in 8 cases with high-order sex chromosome polysomies was determined using DNA polymorphisms. The additional sex chromosomes were paternally derived in 3 48,XXYY cases, and maternal in origin in 1 48,XXXY case and 4 49,XXXXY cases. Thus, all extra chromosomes, within a particular patient, were always derived from only one parent. Their most likely origin was successive nondisjunction at the first and second meiotic division in one germ cell. The mechanism involved remains unclear, but appears to be independent of parental ages.

Abstract

The parental origin of the additional sex chromosomes in 8 cases with high-order sex chromosome polysomies was determined using DNA polymorphisms. The additional sex chromosomes were paternally derived in 3 48,XXYY cases, and maternal in origin in 1 48,XXXY case and 4 49,XXXXY cases. Thus, all extra chromosomes, within a particular patient, were always derived from only one parent. Their most likely origin was successive nondisjunction at the first and second meiotic division in one germ cell. The mechanism involved remains unclear, but appears to be independent of parental ages.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, sex chromosome polysomy, parental origins, nondisjunction
Language:English
Date:1 January 1992
Deposited On:18 Apr 2023 13:46
Last Modified:29 Apr 2024 01:37
Publisher:Karger
ISSN:0001-5652
OA Status:Closed
Publisher DOI:https://doi.org/10.1159/000154066
PubMed ID:1512000