Journal of Genetic Syndromes & Gene Therapy
Open Access

Zafar A Shah

Publications

• Research Article
  Molecular and Cytogenetic Evaluation of Gender in Patients Born with Ambiguous Genitalia from Different Regions of the Valley of Kashmir, North India
  Author(s): Arshad A Pandith, Shahnawaz Akbar, Shehjar Faheem, Tahir M Malla, Maharukh H Zargar, Zafar A Shah, Adil Lateef, Iqbal Qasim, Fayaz A Dar, Niyaz A Azad and Shahid Baba Arshad A Pandith, Shahnawaz Akbar, Shehjar Faheem, Tahir M Malla, Maharukh H Zargar, Zafar A Shah, Adil Lateef, Iqbal Qasim, Fayaz A Dar, Niyaz A Azad and Shahid Baba
  
  Ambiguous Genitalia, a rare genetic disorder is caused by defects in the process of fetal sexual determination and differentiation where a newborn needs prompt evaluation to detect lethal conditions and gender assignment. This genetic screening is taken up with an aim to evaluate the prevalence of the patients born with Ambiguous Genitalia existing in our population. We evaluated the patients for Ambiguous Genitalia with Polymerase Chain Reaction (PCR) using SRY gene and cytogenetic analysis for detecting X and Y chromosome was performed by conventional Karyotyping. Of the 50 Ambiguous Genitalia cases, 21 (42.0 %) were detected positive for SRY gene with 46, XY Karyotype and were recognized as males while as rest of cases 29 of 50 (58%) were confirmed as females by negative SRY gene coupled with 46, XX Karyotype. All the 21 cases positive fo.. View More»
  DOI: 10.4172/2157-7412.1000261

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