J Med Genet 32:831-834 doi:10.1136/jmg.32.10.831
  • Short report

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)

  1. Tsutomu Ogata1,
  2. Atsuko Yoshizawa2,
  3. Koji Muroya1,
  4. Nobutake Matsuo1,
  5. Yoshimitsu Fukushima3,
  6. Gudrun Rappold4,
  7. Susumu Yokoya2
  1. 1Department of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160, Japan
  2. Department of Paediatrics, Toranomon Hospital, Tokyo 105, Japan
  3. 3Division of Medical Genetics, Saitama Children's Medical Centre, Saitama 339, Japan
  4. Institut für Humangenetik, Ruprecht-Karls-Universität Heidelberg, 69120 Heidelberg, Germany


      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 of the Xp21.3−Xp22.33 segment and was missing about 700 kb of DNA from the pseudoautosomal region distal to DXYS15. 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).