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      Variabilidad fenotípica en pacientes 47, XXX: Presentación de cuatro casos nuevos Translated title: Phenotypic variability in 47, XXX patients: Clinical report of four new cases

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          Abstract

          El síndrome 47, XXX se debe a un cromosoma extra del par sexual; su incidencia es de 1 en 1000 recién nacidas vivas. Sin embargo, este síndrome no suele sospecharse al nacimiento ni en la infancia. Muchas de estas pacientes son diagnosticadas durante la edad adulta por falla ovárica precoz o esterilidad, debido a la falta de características clínicas específicas. Este trabajo describe cuatro casos de pacientes 47, XXX y su variabilidad fenotípica.

          Translated abstract

          The 47, XXX karyotype has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. These patients are usually diagnosed during adulthood when they develop premature ovarian failure or infertility, because the early phenotype doesn´t have any specific features. The study describes four cases and the clinical variability of the 47, XXX karyotype.

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          Most cited references14

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          Long-term outcome in children of sex chromosome abnormalities.

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            Health professionals' reports of information given to parents following the prenatal diagnosis of sex chromosome anomalies and outcomes of pregnancies: a pilot study

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              Language and cognitive development in 47, XXX females followed since birth

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                Author and article information

                Journal
                aap
                Archivos argentinos de pediatría
                Arch. argent. pediatr.
                Sociedad Argentina de Pediatría (Buenos Aires, , Argentina )
                0325-0075
                1668-3501
                August 2010
                : 108
                : 4
                : e88-e91
                Affiliations
                [02] orgnameCentro Nacional de Genética Médica (CENAGEM)
                [01] orgnameAsesoramiento genético integral, CEGIN
                Article
                S0325-00752010000400012 S0325-0075(10)10800400012
                242b113c-4ba4-4263-8880-ba11f531eaf8

                This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

                History
                : 05 April 2010
                : 10 September 2009
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 14, Pages: 0
                Product

                SciELO Argentina


                XXX,47,Chromosomal abnormalities,Phenotype triple-X,Aneuploidy,Triple-X,Aneuploidías cromosómicas,Fenotipo triple-X,Cromosomopatía

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