A case of (X;15) translocation diagnosed as a paracentric inversion of Xp: diagnostic revision with FISH
| Autor: | I Moix, J Lespinasse, Ariane Paoloni-Giacobino, Sophie Dahoun |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Adult
medicine.medical_specialty X Chromosome Turner Syndrome Chromosomal translocation Chromosomal rearrangement Biology Translocation Genetic Turner syndrome Genetics medicine Humans In Situ Hybridization Fluorescence X chromosome Chromosomal inversion Gynecology Chromosomes Human Pair 15 medicine.diagnostic_test Cytogenetics Syndrome medicine.disease Chromosome 4 Karyotyping Chromosome Inversion Female Fluorescence in situ hybridization |
| Zdroj: | Annales de Génétique. 44:117-119 |
| ISSN: | 0003-3995 |
| DOI: | 10.1016/s0003-3995(01)01086-3 |
| Popis: | In 1990 we reported the case of a 17 years old girl with growth retardation, overweight and primary amenorrhea, presenting a de novo chromosomal rearrangement cytogenetically characterized as a paracentric inversion of the short arm of X chromosome 〚4〛 . The FISH analyses that were recently performed, revealed that in fact our patient presented a case of unbalanced translocation, 46,X, t(X;15)(p11.2; q15). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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