[47, XXX患者的表型变异性：4例新病例的临床报告]

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

作者信息

Goldschmidt Ernesto, Márquez Marisa, Solari Andrea, Ziembar María I, Laudicina Alejandro

机构信息

CEGIN.

出版信息

Arch Argent Pediatr. 2010 Aug;108(4):e88-91. doi: 10.1590/S0325-00752010000400012.

DOI:10.1590/S0325-00752010000400012

PMID:20672182

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.

摘要

47, XXX核型在女性新生儿中的发生率为千分之一。然而，在出生时或儿童期通常不会怀疑有这种核型。这些患者通常在成年期出现卵巢早衰或不孕时才被诊断出来，因为早期表型没有任何特异性特征。该研究描述了4例47, XXX核型病例及其临床变异性。