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Fragility and spiralization anomalies of the chromosomes in three cases, including fraternal twins, with Fanconi’s anemia, type Estren-Dameshek


Schmid, Werner; Fanconi, Guido (1978). Fragility and spiralization anomalies of the chromosomes in three cases, including fraternal twins, with Fanconi’s anemia, type Estren-Dameshek. Cytogenetic and Genome Research, 20(1-6):141-149.

Abstract

Fraternal twins, offspring of consanguineous parents, developed pancytopenia, the boy at 7, the girl at 12 years of age. A third patient became anemic at 3 years. All three are free of associated malformations. In blood cultures the incidence of chromatid breaks, exchanges, and chromosome-type aberrations was elevated to 24 %, 18 %, and 28 %, respectively. In addition, in a low number of mitotic cells unusual observations, pointing to profound disturbances of chromosome structure, were made. It is suggested that these patients have a genetic defect impairing the normal process of mitotic chromosome condensation and decondensation.

Abstract

Fraternal twins, offspring of consanguineous parents, developed pancytopenia, the boy at 7, the girl at 12 years of age. A third patient became anemic at 3 years. All three are free of associated malformations. In blood cultures the incidence of chromatid breaks, exchanges, and chromosome-type aberrations was elevated to 24 %, 18 %, and 28 %, respectively. In addition, in a low number of mitotic cells unusual observations, pointing to profound disturbances of chromosome structure, were made. It is suggested that these patients have a genetic defect impairing the normal process of mitotic chromosome condensation and decondensation.

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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
Life Sciences > Cell Biology
Uncontrolled Keywords:Genetics (clinical), Genetics, Molecular Biology
Language:English
Date:1 January 1978
Deposited On:27 Jan 2023 12:29
Last Modified:31 May 2024 10:26
Publisher:Karger
ISSN:1424-8581
Additional Information:Prof. Werner Schmid (Institutsleitung bis 1996)
OA Status:Closed
Publisher DOI:https://doi.org/10.1159/000130845
PubMed ID:648172
Other Identification Number:Corpus ID: 46775695
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