title: [Phenotypic variability in 47, XXX patients: Clinical report of four new cases].
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.
authors.affiliation: CEGIN. drernestog@hotmail.com
authors.forename: Ernesto
authors.initials: E
authors.lastname: Goldschmidt
authors.forename: Marisa
authors.initials: M
authors.lastname: Márquez
authors.forename: Andrea
authors.initials: A
authors.lastname: Solari
authors.forename: María I
authors.initials: MI
authors.lastname: Ziembar
authors.forename: Alejandro
authors.initials: A
authors.lastname: Laudicina
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics; D014314:Trisomy / Q000235:genetics