Parsiyel Tetrazomi 18 (Tetrazomi 18p- İzokromozom 18) Olan Olgunun Anestezi Yönetimi Deneyimimiz
Year 2020,
, 28 - 32, 22.06.2020
Ahmet Gültekin
,
Ayhan Sahin
,
İlker Yıldırım
,
Cavidan Arar
Abstract
Tetrazomi 18p (izokromozom 18), 18. kromozom kısa kolunun iki kopyasından oluşan anormal bir ekstra kromozomdan kaynaklanır. Kesin bir prevalans oranı hesaplanamamasına rağmen, 1 / 140.000-180.000 canlı doğum prevalansı ile çok nadir görülen bir kromozomal anormalliktir. Olgumuz bilateral inmemiş testis ve sünnet operasyonu nedeniyle polikliniğimizde değerlendirilen dört yaşında, 11 kilogram ağırlığında bir erkek çocuk hasta olup, anestezi uygulamamızda zor ventilasyon ve zor entübasyon riskine rağmen 2.0 LMA ile başarılı bir şekilde ventilasyon sağlandı.
References
- Brambila Tapia AJ, Figuera L, Vazquez Cardenas NA, et al. The variable phenotype in tetrasomy 18p syndrome: a propos of a subtle dysmorphic case. Genet Couns 2010;21:277-83.
- Sebold C, Roeder E, Zimmerman M, et al. Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet A 2010;152:2164-72.
- Dundar M, Caglayan AO, Saatci C, et al. A case with a rare chromosomal abnormality: isochromosome 18p. Genet Couns 2010;21:69-74.
- Plaiasu V, Ochiana D, Motei G, et al. A rare chromosomal disorder-isochromosome 18p syndrome. Maedica (Buchar) 2011;6:132-6.
- Available from: https://ghr.nlm.nih.gov/condition/tetrasomy-18p# Erişim tarihi: 06Mayıs2020.
- O'Donnell L, Soileau BT, Sebold C, et al. Tetrasomy 18p: Report of cognitive and behavioral characteristics. Am J Med Genet Part A. 2015 Jul;167 (7):1474-82.
- Yıldırım M, Küçük Kurtulgan H, Özer L, et al. A female infant case with tetrazsomy 18p. Cumhuriyet Medical Journal, 2015;37(4):283-6. doi: 10.7197/cmj.v37i4.5000117147.
- Tolva G, Silipigni R, Quarenghi A, et al. J Obstet Gynaecol Res. 2019 Mar;45(3):705-8. doi: 10.1111/jog.13873.
The Experience Of Anesthesia Management Of Partial Tetrazomy 18 (Tetrazomy 18p - Izochromozom 18)
Year 2020,
, 28 - 32, 22.06.2020
Ahmet Gültekin
,
Ayhan Sahin
,
İlker Yıldırım
,
Cavidan Arar
Abstract
Abstract: Tetrasomy 18p (isochromosome 18) originates from an abnormal extra chromosome consisting of two copies of the short 18 chromosome arm. Although a definite prevalence rate can not be calculated, very rare chromosomal abnormality with a prevalence of 1 / 140,000 - 180,000 of live births. Our case was evaluated in our outpatient clinic because of bilateral undescended testis and circumcision operation. Our case was a four-year-old boy who was 11 kilograms, who underwent a successful ventilation with 2.0 LMA despite to difficult ventilation and difficult intubation.
References
- Brambila Tapia AJ, Figuera L, Vazquez Cardenas NA, et al. The variable phenotype in tetrasomy 18p syndrome: a propos of a subtle dysmorphic case. Genet Couns 2010;21:277-83.
- Sebold C, Roeder E, Zimmerman M, et al. Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet A 2010;152:2164-72.
- Dundar M, Caglayan AO, Saatci C, et al. A case with a rare chromosomal abnormality: isochromosome 18p. Genet Couns 2010;21:69-74.
- Plaiasu V, Ochiana D, Motei G, et al. A rare chromosomal disorder-isochromosome 18p syndrome. Maedica (Buchar) 2011;6:132-6.
- Available from: https://ghr.nlm.nih.gov/condition/tetrasomy-18p# Erişim tarihi: 06Mayıs2020.
- O'Donnell L, Soileau BT, Sebold C, et al. Tetrasomy 18p: Report of cognitive and behavioral characteristics. Am J Med Genet Part A. 2015 Jul;167 (7):1474-82.
- Yıldırım M, Küçük Kurtulgan H, Özer L, et al. A female infant case with tetrazsomy 18p. Cumhuriyet Medical Journal, 2015;37(4):283-6. doi: 10.7197/cmj.v37i4.5000117147.
- Tolva G, Silipigni R, Quarenghi A, et al. J Obstet Gynaecol Res. 2019 Mar;45(3):705-8. doi: 10.1111/jog.13873.