Fertility in patients with X chromosome deletions

Three fertile, non-mosaic patients with partial monosomy of an X-chromosome (two with Xp deletion with breakpoints at Xp1106 and Xp2101, respectively, and one with a del(Xq25)) were found among 12 females with Xp deletion and three with Xq deletion investigated in this laboratory after the advent of banding techniques. Four phenotypically normal children resulted from a total of seven pregnancies in these women. Three of the children were chromosomally normal and one girl presented the same del(Xp) as her mother. The possibility of having genotypically and phenotypically normal offspring should be taken into account in the management and genetic counseling of children and females with X-chromosome deletions.