Login / Signup

Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency.

Lushan LiFang FuRu LiXiangyi JingQiuxia YuHang ZhouYou WangXin YangMin PanJin HanLi ZhenDongzhi LiCan Liao
Published in: Genes (2023)
The phenotype of fetuses with SHOX haploinsufficiency is highly varied. Over 1/3 of the cases exhibited no phenotype and nearly 2/3 with short long bones, in the absence of Madelung deformity during fetal development. SHOX haploinsufficiency should be considered in all antenatal presentations, especially in the case of isolated short long bones. CMA can provide effective detection.
Keyphrases
  • pregnant women
  • preterm birth
  • real time pcr
  • contrast enhanced
  • sensitive detection