Insertional Translocation Of 15q25-q26 Into 11p13 And Duplication At 8p23.1 Characterized By High Resolution Arrays In A Boy With Congenital Malformations And Aniridia.

dc.creatorSimioni, Milena
dc.creatorVieira, Társis Paiva
dc.creatorSgardioli, Ilária Cristina
dc.creatorFreitas, Erika Lopes
dc.creatorRosenberg, Carla
dc.creatorMaurer-Morelli, Cláudia Vianna
dc.creatorLopes-Cendes, Iscia
dc.creatorFett-Conte, Agnes Cristina
dc.creatorGil-da-Silva-Lopes, Vera Lúcia
dc.date2012-Nov
dc.date2015-11-27T13:28:54Z
dc.date2015-11-27T13:28:54Z
dc.date.accessioned2018-03-29T01:16:07Z
dc.date.available2018-03-29T01:16:07Z
dc.identifierAmerican Journal Of Medical Genetics. Part A. v. 158A, n. 11, p. 2905-10, 2012-Nov.
dc.identifier1552-4833
dc.identifier10.1002/ajmg.a.35603
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/22991255
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/200202
dc.identifier22991255
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1300435
dc.descriptionWe report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material on 11p13 was cytogenetically visible and array analyses identified a duplicated segment on 15q25-26 chromosome region; further, array analyses revealed a small deletion (49 kb) at 11p13 region involving the ELP4 gene and a duplication at 8p23.1. Results were confirmed with both molecular and molecular cytogenetics techniques. Possibilities for etiological basis of clinical phenotype are discussed.
dc.description158A
dc.description2905-10
dc.languageeng
dc.relationAmerican Journal Of Medical Genetics. Part A
dc.relationAm. J. Med. Genet. A
dc.rightsfechado
dc.rightsCopyright © 2012 Wiley Periodicals, Inc.
dc.sourcePubMed
dc.subjectAbnormalities, Multiple
dc.subjectAniridia
dc.subjectChild, Preschool
dc.subjectChromosomes, Human, Pair 11
dc.subjectChromosomes, Human, Pair 15
dc.subjectChromosomes, Human, Pair 8
dc.subjectComparative Genomic Hybridization
dc.subjectHumans
dc.subjectIn Situ Hybridization, Fluorescence
dc.subjectKaryotype
dc.subjectMale
dc.subjectPhenotype
dc.subjectTranslocation, Genetic
dc.subjectTrisomy
dc.titleInsertional Translocation Of 15q25-q26 Into 11p13 And Duplication At 8p23.1 Characterized By High Resolution Arrays In A Boy With Congenital Malformations And Aniridia.
dc.typeArtículos de revistas


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