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最近的文献表明:17p13单体与Miller-Dieker综合征(脑回发育不全综合征,MDS)相关;DiGeorge畸形(先天性胸腺发育不全)与22q11及10p13缺失相关。而DiGeorge畸形与MDS或者17p13缺失相关尚未见报道。作者报道了一例新生的17p13缺失胎儿的产前诊断。此胚胎具有心脏中隔缺陷和胸腺发育不全。一31岁妇女在第二胎妊娠30周时因子宫大小与月份不符而就诊。妊娠期间无药物接触史,无特殊家族史。超声波检查提示胎儿宫内生长迟缓伴有羊水过多。胎儿约为28±
Recent literature shows that 17p13 monomer is associated with Miller-Dieker syndrome (brain back deficit syndrome, MDS); DiGeorge malformations (congenital thymus hypoplasia) are associated with loss of 22q11 and 10p13. However, no correlation between DiGeorge malformation and MDS or 17p13 deletion has been reported. The authors report a prenatal diagnosis of a newly diagnosed 17p13-deficient fetus. This embryo has cardiac septal defects and thymus hypoplasia. A 31-year-old woman attends a 30-week gestation of the second child due to a mismatch between the size of the uterus and the month. No history of drug exposure during pregnancy, no special family history. Ultrasound examination prompted intrauterine growth retardation associated with polyhydramnios. The fetus is about 28 ±