Phenotypic variability in 47, XXX patients: Clinical report of four new cases

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 s...

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Bibliographic Details
Published inArchivos argentinos de pediatría Vol. 108; no. 4; pp. e88 - e91
Main Authors Goldschmidt, Ernesto, Márquez, Marisa, Solari, Andrea, Ziembar, María I, Laudicina, Alejandro
Format Journal Article
LanguageSpanish
Published Argentina 01.08.2010
Subjects
Chromosomes, Human, X - genetics
Female
Genetic Variation
Humans
Infant
Infant, Newborn
Phenotype
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development - genetics
Trisomy - genetics
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Summary: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.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
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ObjectType-Report-3
ObjectType-Case Study-4
ISSN:1668-3501
DOI:10.1590/S0325-00752010000400012