Microdeletions of chromosome 7p21, including TWIST1, associated with 
significant microcephaly, facial dysmorphism, and short stature

Busche, A.; Graul-Neumann, L. M.; Zweier, C.; Rauch, A.; Klopocki, E.; Horn, D.

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Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature

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Klopocki, E.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Busche, A., Graul-Neumann, L. M., Zweier, C., Rauch, A., Klopocki, E., & Horn, D. (2011). Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. Eur J Med Genet, 54(3), 256-61. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/21333765 http://pdn.sciencedirect.com/science?_ob=MiamiImageURL&_cid=273314&_user=28761&_pii=S1769721211000206&_check=y&_origin=article&_zone=toolbar&_coverDate=30-Jun-2011&view=c&originContentFamily=serial&wchp=dGLbVlk-zSkzV&md5=0215eb57063c1ecc3f2fec72c06fc114/1-s2.0-S1769721211000206-main.pdf.

Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-7830-2

Abstract

Saethre-Chotzen syndrome due to TWIST1 mutations is characterized by coronal synostosis, facial dysmorphism and additional variable anomalies. Small deletions comprising the whole TWIST1 account for a small proportion of patients with Saethre-Chotzen syndrome. Here we describe 3 patients with facial dysmorphism, marked microcephaly, short stature (2/3 patients), and overlapping 7p21 microdeletions. Molecular karyotyping identified small deletions of chromosome 7p21 including TWIST1 with a size of 526 kb, 9.2 Mb, and 11.7 Mb, respectively. The clinical manifestations of these patients do not resemble the typical phenotype of Saethre-Chotzen syndrome. In the two patients with larger microdeletions, severe mental retardation and significant short stature are present. Facial dysmorphism of patient 3 includes also signs of blepharophimosis-ptosis-epicanthus inversus syndrome.