Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature |
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| Authors: | Busche Andreas Graul-Neumann Luitgard M Zweier Christiane Rauch Anita Klopocki Eva Horn Denise |
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| Affiliation: | a Institute of Human Genetics, University Hospital Freiburg, Freiburg, Germany;b Institute for Medical Genetics and Human Genetics, Charité – Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany;c Institute of Human Genetics, Friedrich-Alexander-University, Erlangen-Nuremberg, Germany;d Institute of Medical Genetics, University of Zurich, Zurich, Switzerland |
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| 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. |
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| Keywords: | Saethre– Chotzen syndrome TWIST1 Deletion 7p21 Blepharophimosis– ptosis– epicanthus inversus syndrome |
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