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A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21


Lorda-Sanchez, Isabel; Petersen, Michael B; Binkert, Franz; Maechler, Marco; Schmid, Werner; Adelsberger, Patricia A; Antonarakis, Stylianos E; Schinzel, Albert (1991). A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21. Human Genetics, 87(1):54-56.

Abstract

The origin of meiotic nondisjunction of the extra chromosomes X and 21 was studied in a patient with the karyotype 48,XXY,+21 using DNA polymorphisms. The extra chromosome X was the result of paternal first meiotic nondisjunction of X and Y. The extra chromosome 21 was derived from the mother. The meiotic error in the mother most probably occurred in meiosis II. Thus, this is a combination caused by the chance occurrence of two independent events.

Abstract

The origin of meiotic nondisjunction of the extra chromosomes X and 21 was studied in a patient with the karyotype 48,XXY,+21 using DNA polymorphisms. The extra chromosome X was the result of paternal first meiotic nondisjunction of X and Y. The extra chromosome 21 was derived from the mother. The meiotic error in the mother most probably occurred in meiosis II. Thus, this is a combination caused by the chance occurrence of two independent events.

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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, Down syndrome, Klinefelter syndrome, Down syndrome
Language:English
Date:1 January 1991
Deposited On:26 Jan 2023 06:36
Last Modified:28 Apr 2024 01:46
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf01213092
PubMed ID:1674717
Other Identification Number:Corpus ID: 37994362