8p23.1 Interstitial Deletion In A Patient With Congenital Cardiopathy, Neurobehavioral Disorders, And Minor Signs Suggesting 22q11.2 Deletion Syndrome.

dc.creatorMolck, Miriam C
dc.creatorMonteiro, Fabíola P
dc.creatorSimioni, Milena
dc.creatorGil-da-Silva-Lopes, Vera L
dc.date2015-Sep
dc.date2016-05-23T19:41:21Z
dc.date2016-05-23T19:41:21Z
dc.date.accessioned2018-03-29T01:28:52Z
dc.date.available2018-03-29T01:28:52Z
dc.identifierJournal Of Developmental And Behavioral Pediatrics : Jdbp. v. 36, n. 7, p. 544-548, 2015-Sep.
dc.identifier1536-7312
dc.identifier10.1097/DBP.0000000000000197
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/?term=26263419
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/235519
dc.identifier26263419
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1303762
dc.descriptionCopy number variation studies of known disorders have the potential to improve the characterization of clinical phenotypes and may help identifying candidate genes and their pathways. The authors described a child with congenital heart disease, microcephaly, facial dysmorphisms, developmental delay, learning difficulties, and behavioral problems. There was initially a clinical suspicion of 22q11.2 deletion syndrome (22q11.2 DS), but molecular cytogenetic analysis (array genomic hybridization [aGH]) showed the presence of a de novo 3.6-Mb interstitial microdeletion in 8p23.1. The main features of 8p23.1 DS include congenital heart disease and behavioral problems, in addition to minor dysmorphisms and mental delay. Therefore, this article highlights the application of aGH to investigate 8p23.1 deletion in nonconfirmed 22q11.2 DS patients presenting neurobehavioral disorders, congenital cardiopathy, and minor dysmorphisms.
dc.description36
dc.description544-548
dc.languageeng
dc.relationJournal Of Developmental And Behavioral Pediatrics : Jdbp
dc.relationJ Dev Behav Pediatr
dc.rightsembargo
dc.sourcePubMed
dc.title8p23.1 Interstitial Deletion In A Patient With Congenital Cardiopathy, Neurobehavioral Disorders, And Minor Signs Suggesting 22q11.2 Deletion Syndrome.
dc.typeArtículos de revistas


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