Abstract

GOLDSCHMIDT, Ernesto et al. Phenotypic variability in 47, XXX patients: Clinical report of four new cases. Arch. argent. pediatr. [online]. 2010, vol.108, n.4, pp.e88-e91. ISSN 0325-0075.

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.

Keywords : 47; XXX; Triple-X; Chromosomal abnormalities; Phenotype triple-X; Aneuploidy.

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