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New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome by Jamil Miguel-Neto; Annelise B. Carvalho; Antonia Paula Marques-de-Faria; Gil Guerra-Júnior; Andréa T. Maciel-Guerra is a Medicine article available to read on EtoBox.

What is New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome about?

Background: 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 karyotypephenotype 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.

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Author

Jamil Miguel-Neto; Annelise B. Carvalho; Antonia Paula Marques-de-Faria; Gil Guerra-Júnior; Andréa T. Maciel-Guerra

Publisher

Walter de Gruyter GmbH

Published

2016

Language

EN

Field

Medicine (Health Sciences)