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
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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
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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
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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
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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