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, Tarsis Paiva
dc.creatorSgardioli, Ilaria Cristina
dc.creatorFreitas, Erika Lopes
dc.creatorRosenberg, Carla
dc.creatorMaurer-Morelli, Claudia Vianna
dc.creatorLopes-Cendes, Iscia
dc.creatorFett-Conte, Agnes Cristina
dc.creatorGil-da-Silva-Lopes, Vera Lucia
dc.date2012
dc.date2013-09-19T18:06:49Z
dc.date2016-07-01T15:12:17Z
dc.date2013-09-19T18:06:49Z
dc.date2016-07-01T15:12:17Z
dc.date.accessioned2018-03-29T01:55:26Z
dc.date.available2018-03-29T01:55:26Z
dc.identifierAmerican Journal of Medical Genetics Part A. Wiley-Blackwell, v.158A, n.11, p.2905-2910, 2012
dc.identifier1552-4825
dc.identifierWOS:000310071700040
dc.identifier10.1002/ajmg.a.35603
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/2438
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/2438
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1308797
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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. (c) 2012 Wiley Periodicals, Inc.
dc.description158A
dc.description11
dc.description2905
dc.description2910
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.languageeng
dc.publisherWiley-Blackwell
dc.publisherHoboken
dc.relationAmerican Journal of Medical Genetics Part A
dc.rightsfechado
dc.sourceWOS
dc.subjecttranslocation
dc.subjectarray comparative genomic hybridization
dc.subjectcopy number variation
dc.subjectaniridia
dc.subjectsubmucous cleft palate
dc.subjectcardiac defects
dc.subjectPAX6 GENE
dc.subjectFAMILIAL ANIRIDIA
dc.subjectEYE ANOMALIES
dc.subjectRECEPTOR GENE
dc.subjectHUMAN GENOME
dc.subjectCOPY NUMBER
dc.subjectEXPRESSION
dc.subjectOVERGROWTH
dc.subjectDELETION
dc.subjectGROWTH
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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