G

 

Glass sendromu

Kalıtsal - AD

Gelişme geriliği

Mikrosefali

Alın tümseği geniş ve çıkıntılı

Kulaklar aşağıda

Burun sırtı uzun ve belirgin

Yüz orta bölüm hipoplazisi

Mikrognati

Çukur damak

Yarık damak

Süt dişlerinde sürme gecikmesi

Oligodontia

Kürek biçiminde dişler

İnguinal herni

Parmak anomalileri

Deri ince

Tırnaklar displastik

Saçlar ince

Psikomotor gerilik

Zeka geriliği

Agresyon ve hiperaktif davranışlar

 

  • Glass IA, Swindlehurst CA, Aitken DA, et al. Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. Journal of Medical Genetics, 26: 127-140, 1989

  • Urquhart J, Black GCM, Clayton-Smith J. 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. European Journal of Medical Genetics, 52: 454-457, 2009

  • Rainger JK, Bhatia S, Bengani H, et al. Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. Human Molecular Genetics, 23: 2569-2579, 2014

  • Bengani H, Handley M, Alvi M, et al. Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetics in Medicine, 19:900-908, 2017