Opitz GBBB sendromları
22q11.2 deletion sendromlar kümesi üyesi
Kalıtsal - XLD
2 fenotip
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Opitz GBBB sendromu Tip1
Alın belirgin
Hipertelorizm
Yayvan burun sırtı
Filtrum silik
Üst dudak ince
Yarık dudak
Yarık damak
Çukur damak
Farinks arka bölüm yarığı
Disfaji
Reflü
Konjenital kalp defektleri
Aspirasyon pnömonisi
İmperfore anüs
Üretra ağzı anomalisi (hypospadias)
İnmemiş testis
Psikomotor gelişmede gerilik
Corpus callosum agenezi
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Opitz GBBB sendromu Tip2 (Opitz-Frias sendromu)
Kraniyosinostozis
Asimetrik kranyum
Belirgin alın
Hipertelorizm
Çekik gözler
Strabismus
İşitme sorunları
Yayvan burun sırtı
Filtrum silik
Mikrognati
Üst dudak ince
Yarık dudak
Yarık damak
Çukur damak
Kısa frenulum (lingual)
Uvula bifida
Disfaji
Konjenital kalp defektleri
Trakeözofageal fistül
Akciğer hipoplazisi
Aspirasyon pnömonisi
Herniler
Safra kesesi agenezi
İmperfore anüs
Renal anomaliler
Üretra ağzı ve üreter anomalileri
Skrotum yarığı
İnmemiş testis
Psikomotor gelişmede gerilik
Corpus callosum agenezi
Yapısal beyin anomalileri
Zeka geriliği
Hipotoni
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Robin NH, Feldman GJ, Aronson AL, et al. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nature Genetics, 11: 459-461, 1995
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Robin NH, Opitz JM, Muenke M. Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. American Journal of Medical Genetics, 62: 305-317, 1996
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De Falco F, Cainarca S, Andolfi G, et al. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. American Journal of Medical Genetics, 120A: 222-228, 2003
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So J, Suckow V, Kijas Z, et al. Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics, 132A: 1-7, 2005
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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
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Fontanella B, Russolillo G, Meroni G. MID1 mutations in patients with X-linked Opitz GBBB syndrome. Human Mutation, 29:584–594, 2008
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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