The phenotypic effects of small,distal Xq deletions

Summary The effects of small, distal Xq deletions (Xq26 qter) have been reviewed in light of three cases of our own and five from the literature. The symptoms caused by such deletions range from apparently none through irregular menstruation to secondary amenorrhea (or premature menopause) to primary amenorrhea. That the abnormal chromosome has any effects when it is inactivated may best be explained by one or by a combination of the following hypotheses. (1) the Xq — chromosome might exert an effect during development when cells in which it is active compete with cells in which it is inactivated, assuming that the inactivation of the two X chromosomes is originally random. (2) a more probable hypothesis is that there is a position effect when a break has occurred in the critical region Xq13q27 which apparently must be intact in both X chromosomes to allow normal development of the ovaries. (3) this position effect might, in turn, affect the oocytes (and thus the ovary) after the inactive X chromosome is reactivated before meiosis or the deletion as such might have a direct effect on the ovaries.