Article
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
European journal of human genetics : EJHG - 1 Dec 2009
Engels Hartmut, Wohlleber Eva, Zink Alexander, Hoyer Juliane, Ludwig Kerstin U, Brockschmidt Felix F, Wieczorek Dagmar, Moog Ute, Hellmann-Mersch Birgit, Weber Ruthild G, Willatt Lionel, Kreiss-Nachtsheim Martina, Firth Helen V, Rauch Anita
Abstract excerpt
Molecular karyotyping is being increasingly applied to delineate novel disease causing microaberrations and related syndromes in patients with mental retardation of unknown aetiology. We report on three unrelated patients with overlapping de novo interstitial microdeletions involving 5q14.3-q15. All three patients presented with severe psychomotor retardation, epilepsy or febrile seizures, muscular hypotonia and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.