title: Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.
abstract: 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.
mesh_terms: D000328:Adult; D002901:Chromosomes, Human, 13-15; D004261:DNA Replication; D005260:Female; D006579:Heterozygote; D006801:Humans; D007247:Infertility, Female / Q000175:diagnosis; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D014178:Translocation, Genetic