Tightly linked polymorphic markers for fragile X syndrome and prenatal cytogenetic diagnostic experience
| Autor: | R. G. Del Mastro, Michael W. Kilpatrick, T. P. Webb, I. A. Glass, J. M. Connor, J. A. Raeburn, W. G. Lanyon |
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| Rok vydání: | 1992 |
| Předmět: |
Genetic Markers
Male medicine.medical_specialty Genetic Linkage Chorionic villus sampling Prenatal diagnosis Biology Cytogenetics Genetic linkage Pregnancy Prenatal Diagnosis Obligate carrier medicine Humans Genetics (clinical) X chromosome Genetics Polymorphism Genetic medicine.diagnostic_test Chromosomal fragile site Genetic Carrier Screening DNA medicine.disease body regions Fragile X syndrome Fragile X Syndrome Female |
| Zdroj: | American journal of medical genetics. 43(6) |
| ISSN: | 0148-7299 |
| Popis: | Linkage analysis using the polymorphic loci DXS369, DXS296, DXS297 and DXS306 was carried out on a cohort of 17 families segregating for fragile X syndrome. The observed recombination fractions at: DXS369 (Zmax = 3. 02; theta=0. 06), DXS297 (Zmax= 2. 92; theta = 0.0), DXS296 (Zmax = 3. 82; theta = 0.0), DXA306 (Zmax = 4. 55; theta = 0.05) confirm that these loci are tightly linked to FRAXA. Our experience in the cytogenetic analysis of 58 at risk pregnancies by chorionic villus or fetal blood sample examination documents a false negative rate in obligate carrier male pregnancies for CVS of 11% and for FBS of 3%. |
| Databáze: | OpenAIRE |
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