The publication of University of Health Sciences, Istanbul Sisli Hamidiye Etfal Medical Practice and Research Center

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          VOLUME 44 / ISSUE 2

The Journal is Indexed in

9 - Trisomy 13, patau syndrome: case report

Ali Karaman, Hasan Kahveci

Patau syndrome is a rare congenital disorder which was reported by Patau in 1960. The syndrome is caused by presence of an extra copy of chromosome 13. Trisomy 13 occurs with a frequency of about 1 in 10,000 livebirth. Associated symptoms and findings may vary in range and severity from case to case. However, many affected newborns have abnormalities of skull and facial region; cardiac, renal malformations; and/or other physical abnormalities. The lifespan of babies affected by the severe malformations are shortened. A newborn with multiple malformations characteristic for Trisomy 13 is presented in this case report.

Keywords: Trisomy 13, abnormalities of facial region, cardiac malformations

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