Gülen MERT, Şakir ALTUNBAŞAK, M Özlem HERGÜNER, Faruk İNCECİK

Trisomy 9 Mosaicism Presenting with Epilepsy, and Facial Dysmorphism: A Case Report

Trizomi 9 sendromu, nadir görülen genetik bir bozukluktur. Trizomi 9 sendromu 2 forma sahiptir; 1) mozaik, 2) nonmozaik. Hastalar genellikle mozaisizm varlığından bağımsız olarak büyüme geriliği, mental retardasyon, serebral, yüz, kardiyak, renal ve iskelet anomalileri gibi benzer bulgular ile gelirler. Literatür bilgilerimize göre trizomi 9 mozaisizminde en sık görülen nörolojik semptom, gelişme geriliği ve mental retardasyondur. Literatürde epilepsinin bu sendrom ile ilişkisi bulunamadı. Trizomi 9 mozaisizmi saptanan, dismorfik özellikleri ve nöbetleri olan 10 yaşında bir erkek çocuk bildirdik

Epilepsi ve Fasiyal Dismorfizm ile Gelen Trizomi 9 Mozaisizm: Bir Olgu Sunumu

Trisomy 9 syndrome is a rare genetic disorder. Trisomy 9 has two forms; 1) mosaic, 2) non-mosaic. The patients usually present similar clinical features, independent of the presence of mosaicism, characterized by growth retardation, mental deficiency and brain, facial, cardiac, renal and skeletal abnormalities. Developmental delay and mental retardation are the most common neurological symptom in trisomy 9 mosaicism in our knowledge. Epilepsy associated with this syndrome has not found in literature. We describe a 10-year-old boy with trisomy 9 mosaicism who presented seizures, and dysmorfic features

PDF

___

1. Anneren G, Sedin G. Case report. Trisomy 9 syndrome. Acta Paediatr Scand. 1981;70:125-8.
2. Blanluet-Gerard M, Danan C, Sinico M, Lelong F, Borghi E, Dassieu G, Janaud JC, Odent S, EnchaRazavi F.. Mosaic trisomy 9 and lobar holoprosencephaly. Am J Med Genet. 2002; 111:295- 300.
3. Arnold GL, Kirby RS, Stern TP, Sawyer JR. Trisomy 9: review and report of two new cases. Am J Med Genet. 1995; 56:252-7.
4. Yamanouchi H, Imataka G, Nakagawa E, Nitta A, Suzuki N, Hirao J, Suzumura H, Watanabe H, Arisaka O, Eguchi M. An analysis of epilepsy with chromosomal abnormalities. Brain Dev. 2005; 27:370-7.
5. Moskovitz M, Brener D, Annick RR. Dental management of a child with trisomy 9 mosaicism: a case report. Pediatr Dent. 2006: 28;265-8.
6. Bruns D. Presenting physical characteristics, medical conditions, and developmental status of long-term survivors with trisomy 9 mosaicism. Am J Med Genet A. 2011:155A;1033-9.
7. Wooldridge J, Zunich J. Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature. Am J Med Genet. 1995: 56;258-64.
8. Zen PR, Rosa RF, Rosa RC, Graziadio C, Paskulin GA. New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival. Sao Paulo Med J. 2011: 129;428-32.