dc.creatorMiguel-Neto
dc.creatorJ; Carvalho
dc.creatorAB; Marques-de-Faria
dc.creatorAP; Guerra
dc.creatorG; Maciel-Guerra
dc.creatorAT
dc.date2016
dc.date2016-12-06T18:30:16Z
dc.date2016-12-06T18:30:16Z
dc.date.accessioned2018-03-29T02:02:51Z
dc.date.available2018-03-29T02:02:51Z
dc.identifier2191-0251
dc.identifierJournal Of Pediatric Endocrinology And Metabolism. WALTER DE GRUYTER GMBH, n. 29, n. 4, p. 475 - 479.
dc.identifier0334-018X
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/319998
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1310764
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.description
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.description
dc.description
dc.description
dc.languageEnglish
dc.publisherWALTER DE GRUYTER GMBH
dc.publisherBERLIN
dc.relationJournal of Pediatric Endocrinology and Metabolism
dc.rightsembargo
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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