Trisomy 8 mosaicism (Warkany syndrome 2) has a range of clinical phenotypes depending on the cell lines affected. Common findings include agenesis of the corpus callosum, hydrocephalus, ventriculomegaly, abnormal facies, cardiac malformations, and joint contractures. Children have progressive ...
Merdassi A, Dureau P, Putterman M et al (2004) Corneal choristoma associated with trisomy 8 mosaic syndrome: a clinicopathologic report. J AAPOS 8:204-205Merdassi A, Dureau P, Putterman M, Edelson C, Caputo G, De Laage De Meux P (2004) Corneal choristoma associated with trisomy 8 ...
We present a case of trisomy 8 mosaic syndrome with very different ophthalmic manifestations, some of which are previously unreported in the literature. The patient who was known to have trisomy 8 mosaic syndrome was referred with concerns about his visual abilities. He had a characteristic facial...
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 ...
结果培养羊水细胞显示已经降到只有8%异常mosaic trisomy 15,但是未培养羊水细胞的QF-PCR及aCGH结果仍然和前次一样,FISH结果却呈现70%异常mosaic trisomy 15。此时培养羊水细胞的QF-PCR结果则完全排除UPD(15)。孕妇在妊娠30周时再度接受脐带血取样术(cordocentesis),结果脐血显示1.4%异常mosaic trisomy 15,脐血第15...
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. ...
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...
摘要: A case of severe schizophrenia is described in a patient with chromosomal mosaicism of Klinefelter's syndrome (XXY) and trisomy 8. The literature of both syndromes is reviewed and the aetiological implications discussed.关键词: Keywords Chromosomal mosaicism Klinefelter's Schizophrenia Trisomy 8 ...
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report. Molecular cytogenetics. 2009;2:14. https://doi.org/10.1186/1755-8166-2-14 Sahoo T, Wang JC, Elnaggar MM, et al. Concurrent triplication and uniparental iso...
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。