Cytogenetic and molecular analysis of patients with ambiguous genitalia
Joint Authors
Zaydan, Shadha R.
al-Faysal, Abd al-Husayn Muwayt
Ali, Nahia A.
Source
The Medical Journal of Basrah University
Issue
Vol. 26, Issue 1 (30 Jun. 2008), pp.49-56, 8 p.
Publisher
University of Basrah College of Medicine
Publication Date
2008-06-30
Country of Publication
Iraq
No. of Pages
8
Main Subjects
Topics
Abstract EN
Ambiguity is one of the sex determination disorders which are caused by several genetic and hormonal factors.
This study was carried out to determine the association between sex external genitalia and genetic phenotype and to find the role of SRY in ambiguity.
Twenty one patients with ambiguous genitalia were involved in the study.
Blood samples were used for cytogenetic analysis and for DNA extraction for PCR analysis with SRY and SMCX primers.
In this study we examined 21 patients with ambigiuity and we grouped them into two groups according to their external genitalia.
The first group consists of 6 patients with apparently female external genitalia and the second group consists of 15 patients with apparently female external genitalia plus micropenis.
Cytogenetic and molecular analyses were preformed and the cytogentic analysis revealed that 4 patients of group-1 were with 46, XY karyotype and two with 46, XX karyotype.
While 14 patients of group-2 were with 46, XX and one with mosaic karyotype.
PCR analysis of the DNA extracted from patients blood of both groups with SRY and SMCX primers or with SRY primers alone showed that discordance between PCR and cytogenetic results was detected in patient no.
5 from group-1 and patients no.
7 and 8 from group-2 where the PCR positive to SRY while the karyotype is 46, XX.
Discordance was detected between the external genitalia and cytogenetic karyotype of the patients with ambiguity.
Such discordance was confirmed by PCR analysis.
American Psychological Association (APA)
Zaydan, Shadha R.& al-Faysal, Abd al-Husayn Muwayt& Ali, Nahia A.. 2008. Cytogenetic and molecular analysis of patients with ambiguous genitalia. The Medical Journal of Basrah University،Vol. 26, no. 1, pp.49-56.
https://search.emarefa.net/detail/BIM-114460
Modern Language Association (MLA)
Zaydan, Shadha R.…[et al.]. Cytogenetic and molecular analysis of patients with ambiguous genitalia. The Medical Journal of Basrah University Vol. 26, no. 1 (2008), pp.49-56.
https://search.emarefa.net/detail/BIM-114460
American Medical Association (AMA)
Zaydan, Shadha R.& al-Faysal, Abd al-Husayn Muwayt& Ali, Nahia A.. Cytogenetic and molecular analysis of patients with ambiguous genitalia. The Medical Journal of Basrah University. 2008. Vol. 26, no. 1, pp.49-56.
https://search.emarefa.net/detail/BIM-114460
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 55-56
Record ID
BIM-114460