产前诊断嵌合型2号染色体三体合并单亲二体胎儿1例
Prenatal diagnosis of a fetus with mosaic trisomy 2 and uniparental disomy of chromosome 2
张素粉 1孟小军 2肖鸽飞3
作者信息
- 1. 珠海市妇幼保健院医学遗传与产前诊断科,珠海 519000
- 2. 珠海市妇幼保健院超声科,珠海 519000
- 3. 珠海市妇幼保健院临床试验中心,珠海 519000
- 折叠
摘要
本文报道了一例嵌合型2号染色体三体合并2号染色体单亲二体胎儿的产前遗传学分析.孕妇2019年2月于珠海市妇幼保健院行无创产前检测,提示2号染色体数目增多,故于孕21周+2行羊膜腔穿刺产前诊断.羊水细胞核型分析未检出异常.未经培养的羊水细胞DNA行染色体微阵列分析提示2号染色体有2.3拷贝的重复,且2q21.2q33.1区域存在64.3 Mb的纯合片段.比对胎儿-父母2号染色体上的单核苷酸信息,证实胎儿2q21.2q33.1纯合区域是2号染色体父源单亲同二体,2号染色体的其余区域为父源单亲异二体.孕27+6、31+6和34周+5行超声监测显示胎儿发育迟缓持续加重,且伴胎盘异常和胎儿血流频谱异常.孕35周+3时先兆早产,孕妇选择放弃胎儿,娩一死胎.
Abstract
This paper presented the prenatal genetic analysis of a case of mosaic trisomy 2 combined with uniparental disomy 2.The pregnant women underwent non-invasive prenatal testing in Zhuhai Center for Maternal and Child Health Care on February 2019,which indicated an increased number of chromosome 2.Subsequently,amniocentesis was performed at 21+2 weeks for prenatal diagnosis.No abnormalities were detected through the karyotype analysis of amniotic fluid cells.Chromosome microarray analysis of uncultured amniotic fluid cells revealed a duplication of 2.3 copies in chromosome 2 and 64.3 Mb regions of homozygosity in the 2q21.2q33.1 region.The comparison of single nucleotide information on fetus-parent chromosome 2 showed that the regions of homozygosity of the fetal 2q21.2q33.1 was paternal uniparental isodisomy(2),with the rest of chromosome 2 being paternal uniparental heterodisomy(2).Ultrasound results at 27+6,31+6,and 34+5 weeks of gestation showed continued exacerbation of fetal growth retardation with placental abnormalities and fetal blood flow spectrum abnormalities.Due to threatened preterm delivery at 35+3 weeks,The pregnant woman chose to give up the fetus and delivered a stillbirth.
关键词
染色体,人/三体性/嵌合体/单亲二体性/产前诊断Key words
Chromosomes,human/Trisomy/Chimera/Uniparental disomy/Prenatal diagnosis引用本文复制引用
出版年
2024
NETL
NSTL
维普
万方数据