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6pter-p24 deletion sendromu

Spontan - Kromozom anomalisi

Boyun kısa

Alın geniş

Brakisefali

Hipertelorizm

Çekik gözler

Strabismus

Göz ön kamera anomalileri

Axenfeld-Rieger anomalileri

Korneada opak alanlar

Aşağı-arka yönde yerleşmiş kulaklar

Basık-yayvan burun

Yüz orta bölüm hipoplazisi

Çukur damak

Yarık dudak

Dişlerde biçim anomalileri

Mine hipoplazisi

Fallot tetralojisi

Kalpte septum defektleri

Kalp kapak anomalileri

Psikomotor gerilik

Zeka geriliği

Dandy-Walker malformasyonu

Epileptik ataklar

 

  • Mirza G, Williams RR, Mohammed S, et al. Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. European Journal of Medical Genetics, 12: 718-728, 2004

  • Maclean K, Smith J, St Heaps L, et al. Axenfeld-Rieger malformation and distinctive facial features: clues to a recognizable 6p25 microdeletion syndrome. American Journal of Medical Genetics,132A: 381-385, 2005

  • DeScipio C, Schneider L, Young TL, et al. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. American Journal of Medical Genetics, 134A: 3-11, 2005

  • Aldinger KA, Lehmann OJ, Hudgins L, et al. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nature Genetics, 41: 1037-1042, 2009