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Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21


McCormick, Mary Kay; Schinzel, Albert; Petersen, Michael B; Stetten, Gail; Driscoll, Daniel J; Cantu, Eduardo S; Tranebjaerg, Lisbeth; Mikkelsen, Margareta; Watkins, Paul C; Antonarakis, Stylianos E (1989). Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics, 5(2):325-331.

Abstract

The cytogenetically defined “Down syndrome region” of chromosome 21 has been characterized by DNA analysis in patients with partial trisomy 21 with or without Down syndrome features. Single-copy DNA sequences mapped on chromosome 21 were used to determine copy number by polymorphism and/or dosage analysis in the patients. Given our results, which in some patients were in disagreement with their cytogenetic descriptions, trisomy for locus D21S13 through locus D21S58 is excluded from significant contribution to many Down syndrome features. The minimal chromosome region necessary in triplicate to result in the Down syndrome phenotypes in the patients characterized includes the area from locus D21S55 to locus COL6A1. We could not analyze the region between loci D21S58 and D21S55 and between COL6A1 and 21 qter at the molecular level due to a lack of DNA probes and, consequently, the contribution of these areas to a Down syndrome phenotype when present in three copies is unknown. The molecular cloning and mapping of chromosome 21 and the expansion of the patient population studied will likely result in a more precise molecular definition of the Down syndrome region.

Abstract

The cytogenetically defined “Down syndrome region” of chromosome 21 has been characterized by DNA analysis in patients with partial trisomy 21 with or without Down syndrome features. Single-copy DNA sequences mapped on chromosome 21 were used to determine copy number by polymorphism and/or dosage analysis in the patients. Given our results, which in some patients were in disagreement with their cytogenetic descriptions, trisomy for locus D21S13 through locus D21S58 is excluded from significant contribution to many Down syndrome features. The minimal chromosome region necessary in triplicate to result in the Down syndrome phenotypes in the patients characterized includes the area from locus D21S55 to locus COL6A1. We could not analyze the region between loci D21S58 and D21S55 and between COL6A1 and 21 qter at the molecular level due to a lack of DNA probes and, consequently, the contribution of these areas to a Down syndrome phenotype when present in three copies is unknown. The molecular cloning and mapping of chromosome 21 and the expansion of the patient population studied will likely result in a more precise molecular definition of the Down syndrome region.

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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
Uncontrolled Keywords:Genetics, Genetics (clinical), Chromosome Mapping, Karyotyping, Down Syndrome
Language:English
Date:1 August 1989
Deposited On:27 Sep 2023 15:34
Last Modified:29 Apr 2024 01:40
Publisher:Elsevier
ISSN:0888-7543
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1016/0888-7543(89)90065-7
PubMed ID:2529205