Bahçe, Selda Cumhuriyet Üniversitesi - Tıp Fakültesi - Kadın Hastalıkları ve Doğum Anabilim Dalı, Turkey , Çetin, Meral Cumhuriyet Üniversitesi - Tıp Fakültesi - Kadın Hastalıkları ve Doğum Anabilim Dalı, Turkey , Yıldız, Çağlar Cumhuriyet Üniversitesi - Tıp Fakültesi - Kadın Hastalıkları ve Doğum Anabilim Dalı, Turkey , Özdemir, Öztürk Cumhuriyet Üniversitesi - Tıp Fakültesi - Kadın Hastalıkları ve Doğum Anabilim Dalı, Turkey

Patau syndrome (trizomy 13): a case report

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Trisomy 13, or Patau syndrome, represents the third autosomic trisomy in order of frequency, after trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome), with a prevalence at birth estimated as between 1:12000 and 1:29000. In this study, we are presenting the results of cytogenetic analysis and clinic assessment in fetus of a woman at 22 weeks gestation. Amniocentesis was performed and a karyotype of (47, XY,+13) was determined at 22th weeks of gestation. The pregnancy was terminated with the permission of the parents. We suggested the parents to admit our clinic for the preconceptional counseling.

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Trisomy 13 , Patau syndrome , omphalosel , cleft lib , cleft palate , polidactily

Cumhuriyet Medical Journal

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