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Opitz GBBB sendromu

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Opitz GBBB sendromu 22q11.2 sendromları (22q11 deletion sendromu) kümesinin kalıtsal (x-linked dominant) olan tek fenotipidir. 2 tip Opitz GBBB sendromu bilinmektedir.[1][2][3]

Opitz GBBB sendromu Tip1

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Opitz GBBB sendromu Tip2 (Opitz-Frias sendromu)

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  1. ^ Erickson RP, Diaz de Stahl T, Bruder CEG, Dumanski JP. A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients. American Journal of Medical Genetics, 143A: 3302-3308, 2007
  2. ^ Fontanella B, Russolillo G, Meroni G. MID1 mutations in patients with X-linked Opitz GBBB syndrome. Human Mutation, 29:584–594, 2008
  3. ^ Kruszka P, Li D, Harr MH, et al. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. Journal of Medical Genetics, 52: 104-110, 2015