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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

 

• 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

• 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

• 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

• 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

• 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

• Fontanella B, Russolillo G, Meroni G. MID1 mutations in patients with X-linked Opitz GBBB syndrome. Human Mutation, 29:584–594, 2008

• 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