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6pter-p24 deletion sendromu
Spontan - Kromozom anomalisi
Boyun kısa
Alın geniş
Brakisefali
Hipertelorizm
Çekik gözler
Strabismus
Göz ön kamera 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
Kalpte septum defektleri
Kalp kapak anomalileri
Psikomotor gerilik
Zeka geriliği
Epileptik ataklar
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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
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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
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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
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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