Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner’s Syndrome
| Autor: | Sohier Yahia, Faeza El-Dahtory, El Hadidy M. El Hadidy, Sahar Hamed, Mervat M El-Eshmawy, Mohamed Ragab |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Genetics
Molecular screening lcsh:QH426-470 Article Subject business.industry Gonadoblastoma Karyotype Turner's syndrome medicine.disease Y chromosome law.invention Molecular analysis lcsh:Genetics Testis determining factor law medicine business Molecular Biology Genetics (clinical) Polymerase chain reaction Research Article |
| Zdroj: | Genetics Research International Genetics Research International, Vol 2013 (2013) |
| ISSN: | 2090-3154 |
| DOI: | 10.1155/2013/463529 |
| Popis: | Background. The presence of Y chromosome material in Turner’s syndrome (TS) patients is a risk factor for the development of gonadoblastoma. Although conventional cytogenetic analysis is the definitive diagnosis of TS, low level Y chromosome mosaicism may be missed. Molecular analysis has demonstrated a higher proportion of mosaicism, but there is controversy regarding the prevalence of Y chromosome-derived material in those patients. Aim and Methods. This study was conducted to investigate the prevalence of hidden Y chromosome mosaicism in 48 TS Egyptian patients using polymerase chain reaction (PCR) for molecular DNA analysis of SRY gene and compare our results with those in the literature. Results. None of TS patients had a cytogenetically obvious Y chromosome; Y chromosome material was detected only at molecular analysis. SRY gene was found in 9 TS patients (18.75%) with the classical 45,X karyotype, whereas all other patients were SRY negative. Conclusion. Cytogenetically undetected Y chromosome mosaicism is common in TS patients; these data reinforce the need for adequate diagnosis of Y chromosome material in those patients. Molecular screening for Y chromosome-derived DNA should be routinely carried out in all TS patients. |
| Databáze: | OpenAIRE |
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