RT Journal Article
SR Electronic
T1 Chromosomal localisation of a pseudoautosomal growth gene(s).
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 624
OP 628
DO 10.1136/jmg.29.9.624
VO 29
IS 9
A1 Ogata, T
A1 Petit, C
A1 Rappold, G
A1 Matsuo, N
A1 Matsumoto, T
A1 Goodfellow, P
YR 1992
UL http://jmg.bmj.com/content/29/9/624.abstract
AB Although recent molecular studies in patients with sex chromosome aberrations are consistent with a growth gene(s) being present in the pseudoautosomal region (PAR), the precise location has not been determined. In this report, we describe a Japanese boy and his mother with an interstitial deletion in Xp22.3 and review the correlation between genotype and stature in six cases of partial monosomy of the PAR. The results indicate that the region from DXYS20 to DXYS15 is the critical region for the putative growth gene(s).