Genetic analysis, ultrasound phenotype, and pregnancy outcome of fetuses with Xp22.33 or Yp11.32 microdeletion

The phenotypes of Xp22.33 or Yp11.32 microdeletions containing short-stature homeobox (SHOX) gene have been extensively described in adults and children, however, few have been reported in prenatal fetuses. We analyzed the prenatal ultrasound phenotype and pregnancy outcomes of fetuses with Xp22.33 or Yp11.32 microdeletion containing SHOX gene to improve the understanding, diagnosis, and monitoring of the disease in the fetal period. Chromosomal analysis and chromosomal microarray analysis (CMA) were performed