孕妇在妊娠25周时再度做羊水穿刺复检,结果培养羊水细胞显示30%异常mosaic trisomy 15,未培养羊水细胞DNA经过QF-PCR检测,排除UPD(15),但证实有父源的镶嵌型三染色体15,而羊水基因芯片aCGH检查则显示有75%异常mosaic trisomy 15,同时未培养羊水细胞经FISH检查显示有45%异常mosaic trisomy 15。超音波检查则是正常。 孕...
嵌合型16三体(Mosaic trisomy 16) 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。
To evaluate obstetric and neonatal outcomes as well as long-term neurodevelopmental outcomes and quality of life among prenatally detected cases of mosaic trisomy (MT16) and confined placental mosaicism (CPM) for trisomy 16. We recruited participants for this cross-sectional study through an ...
This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described. 展开 ...
With only a small number of cases in the medical literature, mosaic trisomy 15 in liveborn infants is very rare. Despite its rarity, similar features among individuals have been described, including intrauterine growth retardation, craniofacial abnormalities and facial dysmorphisms, cardiac disease, an...
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. ...
1.Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines and spring 机译:与成纤维细胞系中检测到的过度生长相关的马赛克三兆癣12 Gasparini Yanca ,Montenegro Marilia M. ,Novo-Filho Gil M. - Cytogenetic and genome research - 2019 2.Prenatal diagnosis of mosaic trisomy 12...
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...
Mosaic/mosaicism describes the occurrence of cells in an organism or a tissue that are derived from a single zygote, but with distinct genetic constitutions due to a post-zygotic event. For example, a patient may be mosaic for trisomy 21, with the trisomy present in 40% of cells, and the...
Mosaic trisomy 7 at amniocentesis may be derived from a cell culture artifact from an undetected low level of trisomy 7 mosaicism in uncultured amniocytes, and can be associated with favorable fetal outcome if the blood has a normal karyotype or a very low level of mosaicism and if uniparental...