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Centromere inactivation in a case of turner variant with two dicentric iso-long arm Y chromosomes


Schmid, Werner; D'Apuzzo, V (1978). Centromere inactivation in a case of turner variant with two dicentric iso-long arm Y chromosomes. Human Genetics, 41(2):217-223.

Abstract

A 6-year-old girl of small stature and with some features of Turner's syndrome was found to have a karyotype with two-thirds of the cells possessing one, and one-third with two dicentric iso-long arm Y chromosomes. In metaphases with 46 chromosomes the majority of the abnormal Ys exhibited two primary constrictions. In cells with 47 chromosomes both isochromosomes prevalently had only one active centromere.

Abstract

A 6-year-old girl of small stature and with some features of Turner's syndrome was found to have a karyotype with two-thirds of the cells possessing one, and one-third with two dicentric iso-long arm Y chromosomes. In metaphases with 46 chromosomes the majority of the abnormal Ys exhibited two primary constrictions. In cells with 47 chromosomes both isochromosomes prevalently had only one active centromere.

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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, Internal Medicine, Metabolic Disease, Small Stature, Primary Constriction, Active Centromere
Language:English
Date:1 January 1978
Deposited On:27 Jan 2023 16:18
Last Modified:24 Jun 2024 03:31
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00273104
PubMed ID:565337
Other Identification Number:Corpus ID: 1392861