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Med Bull Sisli Etfal Hosp. 2010; 44(2): 84-86

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.

Key words: Trisomy 13, abnormalities of facial region, cardiac malformations

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Journal of Molecular Pathophysiology


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