Nadir Görülen Bir Olgu: Patau Sendromu

Year 2018, CASE REPORT SPECİAL ISSUE, 3 - 7, 30.07.2018

Mehmet Geyik , Mehmet Tekin , Tarık Koç Gökhan Özel

https://doi.org/10.30569/adiyamansaglik.408448

Abstract

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.

Keywords

Patau sendromu, süt çocuğu, trizomi 13

A Rare Case: Patau Syndrome

Abstract

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

References

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