Girl with partial Turner syndrome and absence epilepsy

This report describes a 16-year-old girl with short stature (-5 standard deviations), normal puberty, panic attacks, absence epilepsy, some stigmata of Turner syndrome, and a Madelung deformity. Routine chromosomal analysis revealed a female karyotype with one abnormal chromosome X, with the suspicion of additional material on the short arm. With fluorescent in situ hybridization and array-multiplex amplifiable probe hybridization methodology, a complex aberration was detected, with a deletion of the distal part of Xp22.33 (including the short-stature homeobox gene) and a duplication of Xp22.32-p22.12 proximal to the deleted segment. The deletion in our patient involves the Xp22.33 region. Two genes in this region may contribute to the patient's phenotype: short-stature homeobox, and visuospatial/perceptual abilities. The duplication in our patient involves the Xp22.12-p22.32 region, which, according to the Online Mendelian Inheritance in Man database, contains at least 93 genes, 49 of which are of unknown function. It is difficult to conjecture which gene overexpression in this region may have contributed to the phenotype of our patient. To our knowledge, this small, complex chromosome X aberration was not described previously.