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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization
Clinical Genetics, Volume 42, No. 3, Year 1992
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Description
Complete monosomy 21 is claimed to be a rare chromosomal disorder in which the cytogenetic investigation is bedevilled by technical difficulties. We describe the disparate clinical features in two patients in whom an initial diagnosis of monosomy 21 was made by routine karyotyping. Fluorescence in situ hybridisation (FISH) confirmed a translocation of chromosome 21 material to the short arm of chromosome 5 and to the X chromosome, respectively. The usefulness of FISH in the investigation of subtle chromosomal rearrangements is hereby demonstrated. These findings also cast doubt on the existence of “pure” monosomy 21 as an entity, and suggest that partial monosomy 21 is a more likely occurrence. Copyright © 1992, Wiley Blackwell. All rights reserved
Authors & Co-Authors
Viljoen, Dennis Lucy
South Africa, Cape Town
Faculty of Health Sciences
Speleman, Frank
Belgium, Ghent
Universiteit Gent
Smart, Ronald D.
South Africa, Cape Town
Faculty of Health Sciences
Roy, Nadine Van
Belgium, Ghent
Universiteit Gent
du Toit, Joan
South Africa, Pretoria
Department of Health, Pretoria
Leroy, Jules Gerard
Belgium, Ghent
Universiteit Gent
Statistics
Citations: 26
Authors: 6
Affiliations: 3
Identifiers
Doi:
10.1111/j.1399-0004.1992.tb03219.x
ISSN:
00099163
e-ISSN:
13990004
Research Areas
Genetics And Genomics