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Nadir Görülen Bir Olgu: Patau Sendromu

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

References

  • 1. Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP. Multiple congenital anomaly caused by an extrachromosome. Lancet1960;9(1):790-3.2. Brewer CM, Holloway SH, Stone DH, Carothers AD, FitzPatrick DR. Survival in trisomy13 andtrisomy 18 cases as certained from population based registers. J MedGenet 2002;39:54.3. Fuloria M, Kreiter S. The newborn examination: Part I. Emergencies and common abnormalities involving the skin, head, neck, chest and respiratory and cardiovascular systems. American Family Physician 2002;65(1):61-68. 4. Carey JC. Trisomy 18 and trisomy 13 syndromes. Cassidy SB, Allanson JE, eds. Management of genetic syndromes, 2. ed. New York: Wiley-Liss, 2005:555-68.5. Hsu HF, Hou JW. Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. Am J MedGenet A 2007;143(15):1739-48.6. Plaiasu V, Ochiana D, Motei G, Anca I, Georgescu A. Clinical relevance of cytogenetic stopediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases. Maedica 2010;5(3):178-85.7. Kılınç N, Demir B, Orhan D, Yayla M. Patau sendromu (Trizomi 13):otopsi olgusu.Perinatoloji Dergisi 2005;132(3):169-7.8. Tunca Y, Kadandale JS, Pivnick EK. Long-termsurvival in Patausyndrome. Clin Dysmorphol 2001;10(2):149-50.9. Tennstedt C, Chaoui R, Körner H, Dietel M. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: Results of a seven yearnecropsystudy. Heart 1999;82(1):34-9.

A Rare Case: Patau Syndrome

Year 2018, CASE REPORT SPECİAL ISSUE, 3 - 7, 30.07.2018
https://doi.org/10.30569/adiyamansaglik.408448

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.

References

  • 1. Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP. Multiple congenital anomaly caused by an extrachromosome. Lancet1960;9(1):790-3.2. Brewer CM, Holloway SH, Stone DH, Carothers AD, FitzPatrick DR. Survival in trisomy13 andtrisomy 18 cases as certained from population based registers. J MedGenet 2002;39:54.3. Fuloria M, Kreiter S. The newborn examination: Part I. Emergencies and common abnormalities involving the skin, head, neck, chest and respiratory and cardiovascular systems. American Family Physician 2002;65(1):61-68. 4. Carey JC. Trisomy 18 and trisomy 13 syndromes. Cassidy SB, Allanson JE, eds. Management of genetic syndromes, 2. ed. New York: Wiley-Liss, 2005:555-68.5. Hsu HF, Hou JW. Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. Am J MedGenet A 2007;143(15):1739-48.6. Plaiasu V, Ochiana D, Motei G, Anca I, Georgescu A. Clinical relevance of cytogenetic stopediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases. Maedica 2010;5(3):178-85.7. Kılınç N, Demir B, Orhan D, Yayla M. Patau sendromu (Trizomi 13):otopsi olgusu.Perinatoloji Dergisi 2005;132(3):169-7.8. Tunca Y, Kadandale JS, Pivnick EK. Long-termsurvival in Patausyndrome. Clin Dysmorphol 2001;10(2):149-50.9. Tennstedt C, Chaoui R, Körner H, Dietel M. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: Results of a seven yearnecropsystudy. Heart 1999;82(1):34-9.
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Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Case Report
Authors

Mehmet Geyik

Mehmet Tekin

Tarık Koç This is me

Gökhan Özel This is me

Publication Date July 30, 2018
Submission Date March 23, 2018
Acceptance Date May 30, 2018
Published in Issue Year 2018 CASE REPORT SPECİAL ISSUE

Cite

AMA Geyik M, Tekin M, Koç T, Özel G. Nadir Görülen Bir Olgu: Patau Sendromu. ADYÜ Sağlık Bilimleri Derg. Published online July 1, 2018:3-7. doi:10.30569/adiyamansaglik.408448