表型严重的X-连锁显性点状软骨发育不良2型女性胎儿一例
X-linked dominant chondrodysplasia punctata 2 with severe phenotype in one female fetus: a case report
本文报道一例表型严重的X- 连锁显性点状软骨发育不良2型女性胎儿.孕妇孕24周 +5超声检查提示胎儿四肢长骨短小、右下肢干骺端粗大、胸廓狭小.无创产前检测结果为低风险.孕27周终止妊娠,引产胎儿X射线检查显示肱骨及股骨缩短、胸廓狭小、干骺端增粗伴粗点状"溅落油漆斑"样改变、双下肢不对称缩短.全外显子组测序发现EBP基因杂合突变c.440G>A (p.Arg147His),父母Sanger验证均不携带该突变,胎儿为新发突变诊断为X-连锁显性点状软骨发育不良2型.本例女性胎儿表型严重,考虑与X染色体随机失活相关.
更多We reported a female fetus diagnosed with X-linked dominant chondrodysplasia punctata 2 with severe phenotype. The fetus was found with abnormal short limbs, thick metaphysis on the right lower limb and a narrow and small thorax by prenatal ultrasound at 24+5 weeks of gestation. Non-invasive prenatal test indicated the risks of trisomies 21, 18 and 13 were low. The pregnancy was terminated at 27 weeks of gestation and postnatal X-ray imaging showed that the fetus had short femur and humerus, a narrow and small thorax, thickened metaphysis with a "splashed paint spot" pattern, and asymmetric shortened lower limbs. Whole-exome analysis showed that the fetus carried a heterozygous pathogenic mutation c.440G>A (p.Arg147His) in the EBP gene. The mutation was confirmed to be a de novo mutation as neither of her parents carried the same mutation. Thus, the patient was diagnosed as having X-linked dominant chondrodysplasia punctata 2. The severe phenotype of this case migh be related to random X chromosome inactivation.
More- 浏览:162
- 被引:0
- 下载:298
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文