Abstract:

Patau syndrome occurs at 1/12000-29000 in living births. While prenatal diagnosis is important, the incidence of this syndrome increases with the age of the mother. Trizomi 13 or Patau syndrome is the third autosomal trizomile chromosome irregularity that is seen after Trizomi 21 (Down syndrome) and Trizomi 18 (Edward syndrome). In this study, the patient with a pregnancy of 22 weeks had a USG result in an amniyosentez analysis of the fetus that was detected as an omphalosal and a half-dump and a caryotype of 47, XY, +13 was detected in the fetus. The family’s approval has also been terminated. The family is advised to apply to our clinic for pregnancy consultancy services in their possible subsequent pregnancies. Keywords: Trisomy 13, Patau syndrome, omphalosel, scratch, scratch, polydactile Abstract: 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 clinical assessment in the fetus of a woman at 22 weeks of pregnancy. Amniocentesis was performed and a caryotype of (47, XY,+13) was determined at 22th weeks of gestation. The pregnancy was terminated with the permission of the parents. We suggested parents to admit our clinic for the preconceptional counseling. Keywords: Trisomy 13, Patau syndrome, omphalosel, cleft lib, cleft palate, polidactily

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