Advanced search
Start date
Betweenand
(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome

Full text
Author(s):
Molck, Miriam C. [1] ; Monteiro, Fabiola P. [1] ; Simioni, Milena [1] ; Gil-da-Silva-Lopes, Vera L. [1]
Total Authors: 4
Affiliation:
[1] Univ Campinas UNICAMP, Dept Med Genet, Sao Paulo - Brazil
Total Affiliations: 1
Document type: Journal article
Source: JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS; v. 36, n. 7, p. 544-548, SEP 2015.
Web of Science Citations: 3
Abstract

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. (AU)

FAPESP's process: 08/10596-0 - Investigation of copy number variation by SNP array in congenital defects with complex inheritance: the model of cleft lip and palate
Grantee:Vera Lúcia Gil da Silva Lopes
Support type: Regular Research Grants
FAPESP's process: 11/23794-7 - Investigative approach in cleft lip and palate and congenital cadiopathy related to 22q11.2 deletion syndrome using open array and aGH techniques
Grantee:Vera Lúcia Gil da Silva Lopes
Support type: Regular Research Grants
FAPESP's process: 09/08756-1 - Velocardiofacial syndrome: laboratorial investigation and phenocopy possibilyts
Grantee:Vera Lúcia Gil da Silva Lopes
Support type: Regular Research Grants