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Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner’s Syndrome
Joint Authors
Yahia, Sohier
El-Dahtory, Faeza A.
El Hadidy, El Hadidy M.
Ragab, Mohamed
El-Eshmawy, Mervat M.
Hamed, Sahar
Source
Genetics Research International
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-07-28
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
El-Eshmawy, Mervat M.& Yahia, Sohier& El-Dahtory, Faeza A.& Hamed, Sahar& El Hadidy, El Hadidy M.& Ragab, Mohamed. 2013. Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner’s Syndrome. Genetics Research International،Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-473569
Modern Language Association (MLA)
El-Eshmawy, Mervat M.…[et al.]. Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner’s Syndrome. Genetics Research International No. 2013 (2013), pp.1-5.
https://search.emarefa.net/detail/BIM-473569
American Medical Association (AMA)
El-Eshmawy, Mervat M.& Yahia, Sohier& El-Dahtory, Faeza A.& Hamed, Sahar& El Hadidy, El Hadidy M.& Ragab, Mohamed. Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner’s Syndrome. Genetics Research International. 2013. Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-473569
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-473569