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 ...
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...
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 ...
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. ...
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 ...
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...
Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five-month-old daughter of a 38-yea...
嵌合型8三体是常见的综合征发,病率约为1/30000活产儿,随年龄增大,淋巴细胞中的异常细胞逐渐消失,因此需做皮肤活检以确诊。男女患病比例为5:1。预期寿命正常,大多数婴儿出生体重正常。 一 临床表现 l智力发育障碍。智商通常为40-75,偶尔可接近正常。