New Approach To Phenotypic Variability And Karyotype-phenotype Correlation In Turner Syndrome

dc.creatorMiguel-Neto
dc.creatorJamil; Carvalho
dc.creatorAnnelise B.; Marques-de-Faria
dc.creatorAntonia Paula; Guerra-Junior
dc.creatorGil; Maciel-Guerra
dc.creatorAndrea T.
dc.date2016
dc.dateabr
dc.date2017-11-13T13:56:42Z
dc.date2017-11-13T13:56:42Z
dc.date.accessioned2018-03-29T06:10:03Z
dc.date.available2018-03-29T06:10:03Z
dc.identifierJournal Of Pediatric Endocrinology & Metabolism. Walter De Gruyter Gmbh , v. 29, p. 475 - 479, 2016.
dc.identifier0334-018X
dc.identifier2191-0251
dc.identifierWOS:000374983200014
dc.identifier10.1515/jpem-2015-0346
dc.identifierhttps://www.degruyter.com/view/j/jpem.2016.29.issue-4/jpem-2015-0346/jpem-2015-0346.xml
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/329922
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1366947
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionPhenotypic variability of Turner syndrome (TS) challenges clinicians, and undiagnosed mosaicism may lead to conflicting results of karyotype-phenotype correlations. This study assessed the extent of phenotypic variability and investigated the presence of karyotype-phenotype correlations. Methods: The sample comprised 80 patients with >= 50 cells analyzed in karyotype. Twenty were 45, X/46, X,+ mar; three groups of 20 patients were constructed by matching those girls with the nearest-aged patient with 45, X, 45, X/46, XX and 45, X/46, X, i(Xq) or 46, X, i(Xq) karyotype. Results: Data were obtained on height z-score, dysmorphic features, echocardiogram and urinary system sonography. The number of dysmorphic features ranged from one to 16 and was not correlated to age at diagnosis or height. The groups did not differ in height, number of dysmorphic features, cardiovascular and urinary system anomalies and frequency of any specific feature, except for short fourth metacarpal. Conclusions: Wide phenotypical variability of TS may be objectively described and its clinical picture is not correlated to karyotype.
dc.description29
dc.description4
dc.description475
dc.description479
dc.descriptionBrazil's National Council for Scientific and Technological Development (CNPq/PIBIC)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.languageEnglish
dc.publisherWalter de Gruyter GMBH
dc.publisherBerlin
dc.relationJournal of Pediatric Endocrinology & Metabolism
dc.rightsfechado
dc.sourceWOS
dc.subjectKaryotype
dc.subjectPhenotype
dc.subjectSex Chromosomes
dc.subjectTurner Syndrome
dc.titleNew Approach To Phenotypic Variability And Karyotype-phenotype Correlation In Turner Syndrome
dc.typeArtículos de revistas


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