Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis
| Autor: | Alan H. Handyside, Paul N. Scriven, C. Mackie Ogilvie |
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| Rok vydání: | 1998 |
| Předmět: |
Genetics
Preimplantation genetic haplotyping medicine.medical_specialty medicine.diagnostic_test Cytogenetics Obstetrics and Gynecology Aneuploidy Karyotype Chromosomal translocation Biology Preimplantation genetic diagnosis medicine.disease Chromosome segregation medicine Genetics (clinical) Fluorescence in situ hybridization |
| Zdroj: | Prenatal Diagnosis. 18:1437-1449 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/(sici)1097-0223(199812)18:13<1437::aid-pd497>3.0.co;2-p |
| Popis: | Preimplantation genetic diagnosis (PGD) offers polymerase chain reaction tests for an increasing range of single gene defects, and fluorescence in situ hybridization tests for sex determination (for X-linked conditions) and for aneuploidy detection. Patients carrying chromosome translocations with a high reproductive risk are increasingly seeking to increase their chances of a normal pregnancy with the help of PGD, for which they present a special challenge. This paper describes the behaviour of reciprocal translocations at meiosis, discusses current methods of detecting meiotic outcomes at the preimplantation stage and outlines ways forward for preimplantation diagnosis of these common rearrangements. We also propose a more general strategy using recently developed chromosome-specific sub-telomeric probes, combined, if possible, with proximal probes, to form a strong diagnostic tool. |
| Databáze: | OpenAIRE |
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