部分型母源性16单亲二体型与均称型胎儿生长受限

Segmental Maternal Uniparental Disomy 16 with Symmetric Fetal Growth Restriction

【目的】应用人类全基因组单核苷酸多态性芯片(SNP array)探讨特发性均称型胎儿生长受限(Symmetric FGR)的病因。【方法】对血清学筛查唐氏综合征高风险且系列超声检查发现20周前已出现胎儿生长受限征象的36例孕妇行羊水胎儿细胞G显带染色体核型分析,其中核型正常的34例孕妇,应用人类全基因组SNP array对羊水中的胎儿细胞及父母双方的外周血细胞进行遗传学分析。【结果】发现2例部分型母源性16单亲二体型(mUPD 16),1例位点为16p12.2-p13.3,长度约为21.0 Mbp和16q24.1-24.3,长度约为4.1 Mbp;另1例位点为16q21-q24.3,长度约为24.1 Mbp。【结论】部分型母源性16单亲二体型可能与均称型胎儿生长受限的发生有关,影响胎儿生长发育的基因有可能定位于16q24。

[objective] To explore the cause of idiopathic symmetric fetal growth restriction with the Genome-wide human single nucleotide polymorphisms array （SNP array）.[Methods] The amniotic fetal cells of 36 women who had high risk of Down＇ s syndrome by serum screening and had signs of fetal growth restriction before 20 weeks of gestation by serial ultrasound examination were carried out G-banded chromosome karyotype analysis.34 of these women had normal karyotype.Fetal cells in the amniotic fluids of them and peripheral blood cells of parents were carried out genetic analysis by genome-wide human SNP array.[Results] Two cases of segmental maternal uniparental disomy 16 （mUPD 16） were found.The regions of isodisomy of one case located on 16p12.2-p13.3 with the length of about 21 Mbp and 16q24.1-24.3 with the length of about 4.1 Mbp ; the region of the other case located on 16q21-q24.3 with the length of about 24.1 Mbp.[Conclusion] Segmental maternal uniparental disomy 16 is probably related with the development of symmetric fetal growth restriction.The genes that can affect the fetal growth are probably located in the region of 16q24.