Article
Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature.
Prenatal diagnosis - 1 Mar 2006
Malan Valérie, Martinovic Jelena, Sanlaville Damien, Caillat Stéphanie, Waill Marie-Christine Perrier, Ganne Marie-Laure Maurin, Tantau Julia, Attie-Bitach Tania, Vekemans Michel, Morichon-Delvallez Nicole
Abstract excerpt
BACKGROUND: Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed. METHODS AND RESULTS: Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirmed that the deletion included the 5q15-21.3 region and was 14 Mb in size. Therefore, the...
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