Balanced X; 22 Translocation in a Patient with Premature Ovarian Failure
| Autor: | D. Takkar, K. Kucheria, A. Kriplani, Neelam Banerjee |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Adult
medicine.medical_specialty X Chromosome business.industry Chromosomes Human Pair 22 Ovarian failure Chromosomal translocation Primary Ovarian Insufficiency Secondary amenorrhea medicine.disease Translocation Genetic Premature ovarian failure Endocrinology X autosome translocation Karyotyping Internal medicine Humans Medicine Female business Genetics (clinical) X chromosome |
| Zdroj: | Acta geneticae medicae et gemellologiae: twin research. 46:241-244 |
| ISSN: | 2059-6324 0001-5660 |
| DOI: | 10.1017/s0001566000000477 |
| Popis: | A case of balanced X; autosome translocation 46, X, t (X; 22) (q 24; q 13) in a 25-year-old female with secondary amenorrhea and premature ovarian failure (POF) is described. The relationship between balanced X; autosome translocation [t (X; A)] and varied phenotypic expression observed in these women is discussed. This case highlights the importance of early recognition of these women in order to give them the best chance of conception in their oligohypomenorrhic phase before complete loss of gonadal function. |
| Databáze: | OpenAIRE |
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