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  • Title: Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.
    Author: Spaggiari E, Aboura A, Sinico M, Mabboux P, Dupont C, Delezoide AL, Guimiot F.
    Journal: Eur J Med Genet; 2012; 55(8-9):498-501. PubMed ID: 22569119.
    Abstract:
    Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. It is caused by cytogenetic deletions or mutations of the TWIST1 gene. We report here a de novo prenatal case with clinically and molecularly well defined Saethre-Chotzen syndrome due to a TWIST1 deletion. This is the first reported case of a deletion encompassing the TWIST1 gene to be diagnosed prenatally. We recommend screening for a deletion of the TWIST1 gene if signs of coronal craniosynostosis with no clear etiology are observed on ultrasound examination.
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