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A malformed boy with double aneuploidy and diploid-triploid mosaicism 48,XXYY/71,XXXYY


Schmid, Werner; Vischer, D (1967). A malformed boy with double aneuploidy and diploid-triploid mosaicism 48,XXYY/71,XXXYY. Cytogenetics and cell genetics, 6(2):145-155.

Abstract

An 11-month-old boy is described with severe developmental retardation, colobomata of both eyes, peculiar facies, syndactylies of the fingers and multiple minor malformations. Lymphocyte cultures showed the karyotype 48, XXYY, whereas, a skin fibroblast culture gave a mixture of diploid and triploid cells with the karyotypes 48, XXYY and 71,XXXYY respectively. In the triploid cell line only one of the three X chromosomes is allocyclic, as demonstrated by H3-TdR labeling and by sex chromatin studies.

Abstract

An 11-month-old boy is described with severe developmental retardation, colobomata of both eyes, peculiar facies, syndactylies of the fingers and multiple minor malformations. Lymphocyte cultures showed the karyotype 48, XXYY, whereas, a skin fibroblast culture gave a mixture of diploid and triploid cells with the karyotypes 48, XXYY and 71,XXXYY respectively. In the triploid cell line only one of the three X chromosomes is allocyclic, as demonstrated by H3-TdR labeling and by sex chromatin studies.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > General Medicine
Uncontrolled Keywords:Genetics (clinical), Autoradiography, Cell Division, Chromosomes, Coloboma, Congenital Abnormalities, Facial Expression, Fibroblasts, Humans, Infant, Intellectual Disability, Karyotyping, Lymphocytes, Male, Mosaicism, Sex Chromatin Tritium
Scope:Contributions to practice (applied research)
Language:English
Date:1967
Deposited On:11 Aug 2023 06:55
Last Modified:29 Apr 2024 01:38
Publisher:Karger
ISSN:0301-0171
OA Status:Closed
Publisher DOI:https://doi.org/10.1159/000129935
PubMed ID:6031524