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Type: Artigo
Title: New Approach To Phenotypic Variability And Karyotype-phenotype Correlation In Turner Syndrome
Author: Miguel-Neto
Jamil; Carvalho
Annelise B.; Marques-de-Faria
Antonia Paula; Guerra-Junior
Gil; Maciel-Guerra
Andrea T.
Abstract: Phenotypic 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.
Subject: Karyotype
Sex Chromosomes
Turner Syndrome
Editor: Walter de Gruyter GMBH
Rights: fechado
Identifier DOI: 10.1515/jpem-2015-0346
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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