8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome.
Copy 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,...
| Publicado en: | Journal of Developmental & Behavioral Pediatrics Vol. 36; no. 7; pp. 544 - 549 |
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| Autores principales: | , , , |
| Formato: | case study Journal Article |
| Publicado: |
Lippincott Williams & Wilkins
Sep2015
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=109646383&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 109646383 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 0196206X 8CM jtl: Journal of Developmental & Behavioral Pediatrics issn: 0196206X maglogo: N pubinfo: dt: Sep2015 vid: 36 iid: 7 pid: 5086 pub: Lippincott Williams & Wilkins place: Baltimore, Maryland artinfo: ui: 109646383 109646383 NLM26263419 2013164779 10.1097/DBP.0000000000000197 NLM26263419 109646383 ppf: 544 ppct: 5 formats: tig: atl: 8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome. aug: au: Molck, Miriam C Monteiro, Fabíola P Simioni, Milena Gil-da-Silva-Lopes, Vera L sug: ab: Copy 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. pubtype: Academic Journal doctype: case study Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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