Mehmet GEYİK, Mehmet TEKİN, Tarık KOÇ, Gökhan ÖZEL

Nadir Görülen Bir Olgu: Patau Sendromu

Patau sendromu, ilave kromozom 13 kopyasının varlığı ile karakterize olan nadir bir kongenital bozukluktur. Patau sendromu(Trizomi 13), Trizomi 21 (Down sendromu) ve Trizomi 18’den (Edward sendromu) sonra en yaygın olarak görülen üçüncü otozomal trizomili kromozom düzensizliğidir. Eşlik eden semptom ve bulguların oranı ve şiddeti olgudan olguya değişebilir. Bununla beraber etkilenen yenidoğanların çoğu kafatası, yüz bölgesi, kalp ve böbrek anormalilerine sahiptir. Etkilenen bebeklerin yaşam süresi ağır malformasyonlar nedeniyle kısadır. Bu çalışmada Patau sendromu olgusu nadir olması nedeni ile sunuldu.

Anahtar Kelimeler:

Patau sendromu, süt çocuğu, trizomi 13

A Rare Case: Patau Syndrome

Patau syndrome is a rare congenital disorder which presence of an extracopy of chromosome 13. Trisomy 13, or Patau syndrome, represents the third autosomal trisomy in order of frequency, after trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome). Associated symptoms and findings may vary in range and severity from case to case. However, many affected newborns have abnormalities of skull, facial region, cardiac and renal abnormalities. The life span of babies affected by the severe malformations are shortened. Here we presented a rare case of Patau syndrome.

Keywords:

Patau syndrome, infant, trisomy 13,

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