Loss of DMRT1 gene in a Mos 45XY-98/46XYr(9)29/47XY+idic r(9)× 21/46XYidic r(9)1/46XY1 female presenting with short stature

摘要

BackgroundA 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region.