Yıl 2008,
Cilt: 71 Sayı: 2, 49 - 51, 14.11.2011
Öz
Cockayne sendromu nadir rastlanan,çok erken yaşta hastayı ölüme götüren ağır bir genetik hastalıktır. Hastalığın temel bulguları; güneş ışığına hassasiyet, büyüme-gelişme geriliği, tipik yüz görünümü ve yapısal anomaliler, nöromotor retardasyon, davranışsal bozukluklardır. Her iki kardeş olgumuz serebrookülofasiyel sendrom olarak bilinen sendromun 2. tipinin özelliklerini taşımaktaydı. Her ikisi de anal atrezi ile doğan hastalarımızın ortak özellikleri; büyüme-gelişme geriliği, tipik yüz görünümleri,ilerleyici mental-motor retardasyon ve fotosensivitedir. Ailelerin genetik danışmanlık hizmeti alabilmeleri için, çocuk hekiminin bu sendromu tanıması önemlidir.
Anahtar Kelimeler
Kaynakça
- Bender MM, Patochi L, Metry DW:What syndrome is this? Cockayne Syndrome Pediatric Dermatol 2003; 20; 538-540.
- Brooks PJ, Cockayne Syndrome and Xeroderma Pigmentosum.Neurology 2000; 28: 55.
- Cao H, Williams C, Carter M, Hegele R A. CKN1 (MIM 216400): Mutations in Cockayne syndrome type A and a new common polymorphism. J Hum Genet 2004; 49:61-63.
- Citterio E, van den Boom V, Schnitzler G, Kanaar R, Bonte E, Kingston RE, Hoeijamakers JHJ, Vermeulen W 2000 ATP-dependent chromatin remodeling by the Cockayne Syndrome B DNA repairtranscription-coupling factor. Mol Cell Biol 2000; 20: 7643-7653.
- Fereriana RC, Roeder ER, Bateman JB. Cataract in early onset and classic Cockayne Syndrome. Ophthalmic Genet 1997; 18:193-197.
- Lehmann AR, Thompson AF, Harcourt SA, Stefenni M, Norris PG: Cockayne’s Syndrome: Correlation of clinical features with cellular sensitivity of RNAsynthesis to UVirriadiation. J Med Genet 1993; 30:679-682.
- Lindor NM, Furuichi Y, Kitao S, Shimamoto A. Arndt C, Jalal S. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet 2000; 90:223-228.
- Lowry RB. Invited editorial comment: Early onset of Cockayne Syndrome. Am J Med Genet 1982; 13:209.
- Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool, AJ, Troelstra C, Stefanini M, Lehmann AR. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet 1998; 62: 77-85.
- Nance MA, Berry SA:Cockayne Syndrome; Review of 140 cases. Am J Med Genet 1992; 42:68.
- Neill CA, Dingwall, MM: Asyndrome resembling progeria: A review of two cases. Arch Dis Child 1950; 25: 213-223.
- Patton MA, Giannelli F, Francis AJ, Baraitser M, Harding B, Williams AJ. Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies. J Med Genet 1989; 26: 154-159.
- Rainbow AJ, Howes M:Adeficiency in the repair of UVand g-ray damaged DNAin fibroblasts from Cockayne’s Syndrome. Mutat Res 1982; 93:235.
- Traboulsi EI, De Becker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthal 1992; 114: 579-583.
Yıl 2008,
Cilt: 71 Sayı: 2, 49 - 51, 14.11.2011
Öz
Kaynakça
- Bender MM, Patochi L, Metry DW:What syndrome is this? Cockayne Syndrome Pediatric Dermatol 2003; 20; 538-540.
- Brooks PJ, Cockayne Syndrome and Xeroderma Pigmentosum.Neurology 2000; 28: 55.
- Cao H, Williams C, Carter M, Hegele R A. CKN1 (MIM 216400): Mutations in Cockayne syndrome type A and a new common polymorphism. J Hum Genet 2004; 49:61-63.
- Citterio E, van den Boom V, Schnitzler G, Kanaar R, Bonte E, Kingston RE, Hoeijamakers JHJ, Vermeulen W 2000 ATP-dependent chromatin remodeling by the Cockayne Syndrome B DNA repairtranscription-coupling factor. Mol Cell Biol 2000; 20: 7643-7653.
- Fereriana RC, Roeder ER, Bateman JB. Cataract in early onset and classic Cockayne Syndrome. Ophthalmic Genet 1997; 18:193-197.
- Lehmann AR, Thompson AF, Harcourt SA, Stefenni M, Norris PG: Cockayne’s Syndrome: Correlation of clinical features with cellular sensitivity of RNAsynthesis to UVirriadiation. J Med Genet 1993; 30:679-682.
- Lindor NM, Furuichi Y, Kitao S, Shimamoto A. Arndt C, Jalal S. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet 2000; 90:223-228.
- Lowry RB. Invited editorial comment: Early onset of Cockayne Syndrome. Am J Med Genet 1982; 13:209.
- Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool, AJ, Troelstra C, Stefanini M, Lehmann AR. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet 1998; 62: 77-85.
- Nance MA, Berry SA:Cockayne Syndrome; Review of 140 cases. Am J Med Genet 1992; 42:68.
- Neill CA, Dingwall, MM: Asyndrome resembling progeria: A review of two cases. Arch Dis Child 1950; 25: 213-223.
- Patton MA, Giannelli F, Francis AJ, Baraitser M, Harding B, Williams AJ. Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies. J Med Genet 1989; 26: 154-159.
- Rainbow AJ, Howes M:Adeficiency in the repair of UVand g-ray damaged DNAin fibroblasts from Cockayne’s Syndrome. Mutat Res 1982; 93:235.
- Traboulsi EI, De Becker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthal 1992; 114: 579-583.
Toplam 14 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 14 Kasım 2011 |
| Gönderilme Tarihi | 14 Kasım 2011 |
| Yayımlandığı Sayı | Yıl 2008 Cilt: 71 Sayı: 2 |
Kaynak Göster
Contact information and address
Addressi: İ.Ü. İstanbul Tıp Fakültesi Dekanlığı, Turgut Özal Cad. 34093 Çapa, Fatih, İstanbul, TÜRKİYE
Email: itfdergisi@istanbul.edu.tr
Phone: +90 212 414 21 61