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Satellites on the long Y chromosome arm: a familial Y/autosome translocation in man


Schmid, Werner (1969). Satellites on the long Y chromosome arm: a familial Y/autosome translocation in man. Cytogenetic and Genome Research, 8(6):415-426.

Abstract

A proband girl was investigated because of a congenital heart defect and hexadactyly. Her brother and sister died in early infancy from cardiac malformations. In the patient, satellites were found on a chromosome No. 17 in 34% of cultured lymphocytes. The same cytological anomaly was discovered in the karyotype of her normal father. In addition, this man possessed a Y chromosome with satellites at the end of the long arm. The same satellited Y was demonstrated in the paternal grandfather and the abnormal No. 17 in the paternal grandmother. The satellited Y chromosome was found associated with group D and G chromosomes in over 30% of the metaphases in both men, strongly indicating a true nucleolar-organizing region and, therefore, a translocation from an autosome. Only a few associations were noted for the abnormal No. 17, where the appearance of satellites is probably due to a secondary constriction of a different nature. The identification of the two abnormal chromosomes was confirmed by autoradiography. A direct pathogenic significance of these structural anomalies is questionable.

Abstract

A proband girl was investigated because of a congenital heart defect and hexadactyly. Her brother and sister died in early infancy from cardiac malformations. In the patient, satellites were found on a chromosome No. 17 in 34% of cultured lymphocytes. The same cytological anomaly was discovered in the karyotype of her normal father. In addition, this man possessed a Y chromosome with satellites at the end of the long arm. The same satellited Y was demonstrated in the paternal grandfather and the abnormal No. 17 in the paternal grandmother. The satellited Y chromosome was found associated with group D and G chromosomes in over 30% of the metaphases in both men, strongly indicating a true nucleolar-organizing region and, therefore, a translocation from an autosome. Only a few associations were noted for the abnormal No. 17, where the appearance of satellites is probably due to a secondary constriction of a different nature. The identification of the two abnormal chromosomes was confirmed by autoradiography. A direct pathogenic significance of these structural anomalies is questionable.

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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 > Molecular Biology
Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Molecular Biology
Language:English
Date:1 January 1969
Deposited On:27 Jan 2023 13:35
Last Modified:28 Apr 2024 01:47
Publisher:Karger
ISSN:1424-8581
OA Status:Closed
Publisher DOI:https://doi.org/10.1159/000130053
PubMed ID:5365247
Other Identification Number:Corpus ID: 8613448
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