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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-53002

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. European Journal of Medical Genetics, 54(3):256-261.

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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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Deposited On:06 Jan 2012 15:49
Last Modified:05 Apr 2016 15:14
Publisher DOI:10.1016/j.ejmg.2011.02.002
PubMed ID:21333765

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