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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Dixon, J. W. Graham, D. Seip, J. R. Woodage, T. Smith, A. Prasad, M. Rogan, P. K. Selby, R. E. Romain, D. R. Columbano-Green, L. M. |
| Description | Author Affiliation: Woodage T ( Department of Molecular Genetics, Royal Prince Alfred Hospital, Camperdown, New South Wales.) |
| Abstract | Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syndrome (PWS). Molecular analysis showed maternal uniparental disomy for chromosome 15. Meiotic recombination between the two disomic chromosomes 15 has resulted in heterodisomy for proximal 15q and isodisomy for distal 15q. In this individual BS is probably due to homozygosity for a gene that is telomeric to D15S95 (15q25), rather than to genetic imprinting, the mechanism responsible for the development of PWS. This report represents the first application of disomy analysis to the regional localization of a disease gene. This strategy promises to be useful in the genetic mapping of other uncommon autosomal recessive conditions. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 1 |
| Volume Number | 55 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1994-07-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Bloom Syndrome Genetics Chromosome Aberrations Chromosomes, Human, Pair 15 Diagnosis Chromosome Mapping Diagnosis, Differential Infant, Newborn Nondisjunction, Genetic Polymorphism, Restriction Fragment Length Prader-willi Syndrome Repetitive Sequences, Nucleic Acid Sister Chromatid Exchange Telomere Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article Case study |
| Subject | Genetics Genetics (clinical) |
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