W

 

Warkany sendromu (trisomi 8)

Spontan

Gelişme geriliği

Mikrosefali

Kranyum deformasyonu

Alın bombesi yüksek

Hipertelorizm

Strabismus

Korneada opak lekeler

Yüz uzun

Yüz hipoplazisi (orta bölüm)

Alt dudak kalın

Çukur damak

Yarık damak

Mikroretrognati

Kardiyovasküler anomaliler

Ürogenital anomaliler

Uzun-silindir gövde

Dar toraks

Dar pelvis

Patella hipoplazisi/agenezi

Süpernümerer/geniş kosta

Spina bifida

Kelebek vertebra

Skolyoz

Avuç ve tabanlarda derin çizgiler

Beyin anomalileri

Epilepsi

Zeka geriliği

Tümör riski: Wilms tümörü, rabdomyosarkoma, lösemi

 

  • Wisniewska M, Mazurek M. Trisomy 8 mosaicism syndrome. Journal of Applied Genetics, 2002;43(1):115-118, 2002

  • Jacquemont S, Boceno M, Rival, JM, et al. High risk of malignancy in mosaic variegated aneuploidy syndrome. American Journal of Medical Genetics, 109: 17-21, 2002

  • Hanks S, Coleman K, Reid S, et al. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nature Genetics, 36: 1159-1161, 2004

  • Udayakumar AM, Al-Kindy A. Constitutional trisomy 8 mosaicism syndrome: case report and review. Journal of Pediatric Genetics, 2(4):197-201, 2013

  • Iwatani S, Takeoka E, Mizobuchi M, et al. Trisomy 8 mosaicism with pyloric atresia and situs ambiguous. Pediatrics International, 56(6):938-939, 2014

  • Altıner Ş, Kutlay NY, İlhan O. Constitutional trisomy 8 mosaicism with persistent macrocytosis. Cytogenetic & Genome Research, 150(1):35-39, 2016