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...

Full description

Saved in:

Bibliographic Details
Published in:	Archivos 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
Language:	Spanish
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
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
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 ObjectType-Feature-1 content type line 23 ObjectType-Report-3 ObjectType-Case Study-4
ISSN:	1668-3501
DOI:	10.1590/S0325-00752010000400012