Deletions of Xq and growth deficit: a review

A critical review of the literature disclosed 44 cases with a 46,X,Xq- karyotype without apparent mosaicism. Of these, 17 were of normal height (compared to the respective population), 11 had a height of over 1 SD below the mean, and 16 had a height of over 2 SD below the mean with breakpoints between Xq13 and Xq25. Since patients of normal height occurred with breakpoints as proximal as Xq13 we conclude that there is no major "growth gene" on Xq distal to q13. The most likely explanation for the variable phenotypic effect of Xq- is to assume that growth gene(s) in Xp or proximal Xq are inactivated on such a chromosome with some variability similar to the variable spreading of X inactivation seen in some X-autosome translocations.