Article
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.
BMC medical genetics - 30 May 2014
Vaccari Carlotta Maria, Romanini Maria Victoria, Musante Ilaria, Tassano Elisa, Gimelli Stefania, Divizia Maria Teresa, Torre Michele, Morovic Carmen Gloria, Lerone Margherita, Ravazzolo Roberto, Puliti Aldamaria
Abstract excerpt
BACKGROUND: Poland Syndrome (PS) is a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle, variably associated with thoracic and upper limb anomalies. Familial recurrence has been reported indicating that PS could have a genetic basis, though the genetic mechanisms underlying PS development are still unknown. CASE PRESENTATION: Here we describe a couple of monozygotic (MZ) twin girls,...
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