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Title:	Molecular Characterization of a Patient With 3p Deletion Syndrome and a Review of the Literature
Keywords:	chromosome 3;3p deletion syndrome;3p- syndrome;array-CGH analysis;FISH
Publisher:	Wiley-Liss, Inc.
Description:	3p deletion syndrome is a rare disorder involving developmental delay, dysmorphic physical features, and growth retardation. Molecular mapping of several cases in the literature have identified a critical region on chromosome 3p26. We present a child patient with characteristic features of 3p deletion syndrome and a de novo unbalanced translocation involving chromosomes 3 and 13. Fine mapping of this rearrangement using fluorescence in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH) revealed an unbalanced abnormality including a 4.5 Mb terminal deletion of chromosome 3p, telomeric to ITPR1 on 3p26.2, which was not previously identified with routine cytogenetic analysis. In addition, these investigations confirmed and refined the boundaries of a 26.5 Mb deletion of chromosome 13. This study confirms the minimal candidate region for 3p deletion syndrome, provides further evidence implicating haploinsufficiency of CNTN4 in the disorder, and demonstrates the utility of high-resolution investigations of rare chromosomal rearrangements. Yale Child Study Center, Yale University School of Medicine, New Haven, Connecticut Instituto de Genética Humana, Universidad de Guadalajara, Guadalajara, Jalisco, México Departamento de Biología Molecular y Genómica, Universidad de Guadalajara, Guadalajara, Jalisco, México Department of Genetics, Yale University School of Medicine, New Haven, Connecticut Program on Neurogenetics, Yale University School of Medicine, New Haven, Connecticut Hospital Regional ‘‘Dr. Valentin Gómez Farías’’ ISSSTE, Serv. Endocrinología, Guadalajara, Jalisco, México Hospital Regional ‘‘Dr. Valentin Gómez Farías’’ ISSSTE, Serv. Nefrología, Guadalajara, Jalisco, México Hospital Regional ‘‘Dr. Valentin Gómez Farías’’ ISSSTE, Serv. Neuropediatría, Guadalajara, Jalisco, México Hospital Regional ‘‘Dr. Valentin Gómez Farías’’ ISSSTE, Serv. Cardiopediatría, Guadalajara, Jalisco, México Hospital Regional ‘‘Dr. Valentin Gómez Farías’’ ISSSTE, Serv. Otorrinolaringología, Guadalajara, Jalisco, México Hospital Regional ‘‘Dr. Valentin Gómez Farías’’ ISSSTE, Serv. Genética, Guadalajara, Jalisco, México
URI:	https://hdl.handle.net/20.500.12104/72558
Other Identifiers:	Fernandez TV,García-González IJ, Mason CE,Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E’Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda JA, State MW, Dávalos NO. 2008. Molecular characterization of a patient with 3p deletion syndrome and a review of the literature. Am J Med Genet Part A 146A:2746–2752. 1552-4833 DOI: 10.1002/ajmg.a.32533 http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/360
Appears in Collections:	CUALTOS

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