SHORT STATURE IN A MOTHER AND DAUGHTER WITH TERMINAL DELETION OF XP22.3

Short stature in females is often caused by hemizygosity for the termi nal portion of Xp due to monosomy X or a deletion. We report on a moth er and daughter with short stature as sole phenotypic abnormality and deletion of bands Xp22.32-p22.33 demonstrated by classic and molecular cytogenetic analysis. In both individuals, the deleted X chromosome w as late replicating. Molecular analysis suggested that the deletion is terminal and the breakpoint was localized between the STS and DXS7470 loci in Xp22.32. Chromosome analysis is often done on females with sh ort stature to exclude Ullrich-Turner syndrome. Small deletions, termi nal or interstitial, are easily missed by conventional cytogenetic inv estigation; thus molecular analyses are useful to detect those cases. (C) 1996 Wiley-Liss, Inc.