Fertility in 47,XXX and 45,X patients.

Abstract

SUMMARY Female patients with a sex chromosome abnormality may be fertile. In patients with a 47,XXX cell line there appears to be an increased risk of a cytogenetically abnormal child but the extent of this risk cannot yet be determined; it is probably lower in the non-mosaic 47,XXX patient than the mosaic 46,XX/47,XXX one. Patients with a 45,X cell line rarely become pregnant, and when they do they appear to have a high risk of an abnormal child or repeated unsuccessful pregnancies; this risk is certainly exaggerated by the method of reporting; when the poor reproductive performance is first identified leading to the recognition of the maternal cytogenetic fault, the reproductive failure rate is naturally high; when the maternal fault is first identified and the reproductive history then established far better results are evident.

Meiosis and sex chromosome aneuploidy: how meiotic errors cause aneuploidy; how aneuploidy causes meiotic errors

“…Nevertheless, the scant data that are available provide parallels with the 47,XYY condition. Specifically, fertility appears unimpaired among 47,XXX women, and there is little evidence for an increase in aneuploidy among their progeny [48,49]. Similar to the suggestions for the other sex chromosome trisomies, it has been proposed that loss of an X chromosome in a progenitor cell line leads to generation of a normal 46,XX cell line, and that this cell type is better -or perhaps the only cell type -able to complete meiosis.…”

Deletion of the short arm of the X chromosome: A hereditary form of Turner syndrome

“…About 20% of girls with Turner syndrome will, however, develop puberty spontaneously [8,10] and fertility has been reported in 2% [1,10]. Pregnancies in Turner women are frequently complicated by miscarriages and stillbirth; moreover, about 20% of live born infants present abnormalities including Down syndrome and Turner syndrome [1,10].…”

“…About 20% of girls with Turner syndrome will, however, develop puberty spontaneously [8,10] and fertility has been reported in 2% [1,10]. Pregnancies in Turner women are frequently complicated by miscarriages and stillbirth; moreover, about 20% of live born infants present abnormalities including Down syndrome and Turner syndrome [1,10]. We here report two cases of familial Turner syndrome caused by a deletion of the short arm of the X chromosome in which the diagnosis established in the daughter led to the identification of the same X chromosomal deletion in their mothers.…”

Triple X Egyptian woman and a Down′s syndrome offspring

“…In patients with a 47, XXX cell line there appears to be an increased risk of a cytogenetically abnormal child; however, the extent of this risk cannot yet be determined; it is probably lower in the non-mosaic 47, XXX patient than the mosaic 46, XX/47, XXX one. [2]…”