A Prevalent Y;15 Translocation in the Ethiopian Beta Israel Community in Israel
| Autor: | Z. Appelman, S. Josefsberg Ben-Yehoshua, R. Nissani, J. Rosensaft, R. Chen-Shtoyerman |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Genetics Chromosomes Human Pair 15 Chromosomes Human Y medicine.diagnostic_test Prenatal diagnosis Chromosomal translocation Biology Translocation Genetic Fetus Karyotyping Abnormal karyotypes medicine Humans Female Ethiopia Israel Beta (finance) Molecular Biology In Situ Hybridization Fluorescence Genetics (clinical) Fluorescence in situ hybridization |
| Zdroj: | Cytogenetic and Genome Research. 136:171-174 |
| ISSN: | 1424-859X 1424-8581 |
| DOI: | 10.1159/000336201 |
| Popis: | We describe 7 cases of abnormal karyotypes involving chromosomes Y and 15 in Ethiopian Beta Israel patients: 46,XX, der(15)t(Y;15)(q12;p12) and 46,XY,der(15)t(Y;15)(q12;p12). Six cases were incidentally found in amniocentesis performed for various indications; the indication for karyotyping in 1 case was recurrent abortions. To the best of our knowledge, this is the first report of this translocation in a specific ethnic group. We conclude that the derivative chromosome 15 with chromosome Y is probably a normal variant in Ethiopian Beta Israel occurring at an estimated frequency of 4/74 (5.4%). The prenatal diagnosis of this translocation in this population probably does not require further parental testing. |
| Databáze: | OpenAIRE |
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