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Hindi Journal of Womens Health, Issues and CareISSN: 2325-9795
Khan S Author
Subjects of specialization
Affiliation
Cervical and Ovarian Cancer, Adolescent gynecology, Gynecology
Department of Anthropology, University of Delhi, India
Biography
Dr. Khan S is currently working in Department of Anthropology, University of Delhi, India. Research interest - Cervical and Ovarian Cancer, Adolescent gynecology, Gynecology. He has a good track record in managing and developing local teams and competences as well as in growing a profitable business.
Publications
Case Report Open Access
Reproductive Implications of Consanguinity: Recurrent Hydrops and a Fetal Diagnosis of Lethal Gaucher Disease
Author(s): Jayakumaran JS, Khan S, Ashkinadze E and Schuster M
Consanguinity is defined as a relationship with one recent ancestor in common. We present a Muslim couple with known consanguinity and their fetal outcomes over multiple pregnancies. This patient is a 28 yo G4P0300 who is married to her fourth cousin. Her first pregnancy was in Egypt during which a fetal demise was diagnosed at 21 weeks. Her second pregnancy ended in another fetal demise at 27 weeks and most organs were consistent with hydrops. Expanded carrier screening of both parents was negative. Her third pregnancy was complicated by hydropic changes at 21 weeks and fetal demise at 22 weeks. She consented to a trio whole exome sequence revealing a homozygous nonsense mutation c.1534A>T in the GBA gene. The mutation was found in the heterozygous state for each parent. Homozygosit... view more»
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