2022年,我在国际医学期刊发表论文报告一例产前检查发现是镶嵌型三染色体9(mosaic trisomy 9)并有母源单一亲源二染色体9(maternal uniparental disomy 9)即matUPD(9)的案例。这是一位高龄的孕妇,她在妊娠11周时,做母血NIPT检验,又同时做PIGF(placental growth factor)(胎盘生长因子)检查。结果NIPT发现孕妇母血中有...
Mosaic trisomy 9: two additional cases. Hum Genet 1977; 38:131-5.Tropp, MR, Currie, M (1977) Mosaic trisomy 9: two additional cases. Hum Genet 38: pp. 131-135Tropp MR , Currie M ( 1977 ): Mosaic trisomy 9: two additional cases . Hum Genet 38 : 131 – 135 ....
The authors present a case of mosaic trisomy 9 with typical clinical manifestations(facial dysmorphism, various internal organ malformations and severe psychomotor retardation), pigmentary mosaic skin lesions along the lines of Blaschko and evidence of maternal uniparental disomy in skin....
To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 9. Materials, Methods and Results A 35-year-old woman, gravida 3, para 1, underwent amniocentesis at 17 weeks of gestation because of her advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+9[3]/46...
John Wiley & Sons, Ltd.Prenatal DiagnosisTseng JJ, Chou MM, Ho ESC. Varix of the portal vein: pre- natal diagnosis in a fetus with mosaic trisomy 9 syndrome. Prenat Diagn 2002;22:495-7.
Mosaic trisomy 21 accounts for 2–4% of Down's syndrome cases, which are distinct from complete trisomy in that the former can have less severe intellectual and developmental manifestations [24]. Mosaic Turner's syndrome, also known as mosaic X loss, also manifests in a less severe phenotype...
The manifestations of these two patients resemble those of mosaic trisomy 8 and mosaic trisomy 8p, with rib and vertebral abnormalities, absent corpus callosum, and enlarged cerebral ventricles. 展开 关键词: mosaic tetrasomy 8p clinical cytogenetic pathologic manifestations ...
导语:嵌合型16三体(Mosaic trisomy 16) 16三体是在自发流产中最常见的三体,在所有做临床检查的孕妇中的发生率约为1.5%,占所有流产病例的7.5%。完全性16三体的妊娠仅能持续到最小胚胎发育.16三体来自母体减数分裂时的错误。嵌合型16三体来自三体自救,因此有母源单亲二体的风险。
Presenting physical characteristics, medical conditions, and developmental status of long-term survivors with trisomy 9 mosaicism Much of the available literature on individuals with trisomy 9 mosaicism focuses on reports concerning results of prenatal testing or fetal autopsy with li... Deborah,Bruns -...
Finally, cytogenetic analysis showed the presence of non-mosaic X trisomy (65,XXX), an aneuploidy of sex chromosomes that is rarely detected in horses. This finding was also confirmed by molecular methods, including highly sensitive droplet digital PCR (ddPCR) and microsatellite markers genotyping. ...