Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s).

Received 24 February 1995 Revised version accepted for publication 25 May 1995 Abstract This report describes a 12 year 10 month old girl with short stature and a non-mosaic 46,X,Xp + karyotype. Her height remained below -2 SD of the mean, and her predicted adult height (143 cm) was below her target height (155.5 cm) and target range (147-5 cm-163-5 cm). Cytogenetic and molecular studies showed that the Xp + chromosome was formed by an inverted duplication ofthe Xp2l.3-Xp22.33 segment and was missing about 700 kb of DNA from the pseudoautosomal region distal to DXYS 15. The results provide further support for the previously proposed hypothesis that the region between DXYS20 and DXYS15 is the critical region for a pseudoautosomal growth gene(s).