Article
A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis.
American journal of medical genetics. Part A - 1 Jan 2014
van Binsbergen Ellen, Ellis Richard J, Abdelmalik Nadia, Jarvis Joanna, Randhawa Kashmir, Wyatt-Ashmead Josephine, Canham Natalie, Thorpe-Beeston J Guy, Mancini Grazia M S, Van Haelst Mieke M
Abstract excerpt
Deletions of the long arm of chromosome 2 are rare. Few cases of interstitial deletions of the 2q33q35 region have been reported. Individuals with deletions in this region have growth retardation, psychomotor retardation, micrognathia, microcephaly, and apparently low-set ears. We describe a female fetus with a de novo deletion of 2q33.2 to q35 with delayed gyral formation with widespread neuronal heterotopia of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.