Women heterozygous for deficiency of the (p21 ? pter) region of the X chromosome are fertile

• DOI: 10.1007/bf00295421
• Publication Date: 2004-11-09T12:51:48Z
• Authors: M. Fraccaro; Paola Maraschio; F. Pasquali; Susi Scappaticci
• Keywords: Human genetics; Metabolic disease; Heterozygote advantage

A woman balanced carrier of a X/15 translocation gave birth to a balanced infertile son and three unbalanced Xp--fertile daughters. This family and the other eleven cases of Xp--fertile women found in the literature demonstrate that loss of the p21 leads to pter region of the X chromosome is compatible with fertility, probably because it leaves on Xp the region which is never inactivated.