Article
A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.
European journal of medical genetics - 1 Jan 2000
De Marco Patrizia, Raso Alessandro, Beri Silvana, Gimelli Stefania, Merello Elisa, Mascelli Samantha, Baldi Maurizia, Baffico Ave Maria, Pavanello Marco, Cama Armando, Capra Valeria, Giorda Roberto, Gimelli Giorgio
Abstract excerpt
Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostosis syndrome with variable expression. Here we report on a female infant with a de novo balanced translocation 46, XX, t(7;12)(p21.2;p12.3) and presenting at birth brachycephaly, antimongolic palpebral fissures, ocular hypertelorism, broad nose with low nasal bridge and low-set ears. This phenotype is suggestive of a subtle form of SCS, given...
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