To present prenatal diagnosis of mosaic trisomy 8 and to review the literature. A 34-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+8[6]/46,XY[31]. Repeated amniocentesis at 21 weeks of gestation...
trisomyObjectiveTo describe the first term pregnancy in a patient with the characteristic features of trisomy 8 mosaicism.DesignCase report.SettingUniversity department.Patient(s)The 23-year-old proband had a history of cleft palate, mixed bilateral hearing loss, short stature, and developmental delay...
(1994), Pitfall: Amniocentesis fails to detect mosaic trisomy 8 in a male newborn. Prenat. Diagn., 14: 651–652. doi: 10.1002/pd.1970140728 Author Information 1 Labor für Medizinische Genetik, Dr Tettenbon Neue Str. 40, 89073 Ulm, Germany 2 Abteilung Klinische Genetik, Institut für ...
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...
Mosaic trisomy 8 associated with jejunal duplicationELISAFAMILIAL AMYLOIDOTIC POLYNEUROPATHYLIVER TRANSPLANTATIONRIATTR MET30Rogers RC, Marsh TD, Reddy P, Lett D.doi:10.1111/j.1399-0004.1991.tb03091.xR. Curtis RogersT. David MarshPrithvi Reddy
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 ...
(a combination of haploid, di-, tri-, and tetraploid, each blastomere has a random set of chromosomes) (Taylor et al., 2014), and (iv) mitotic mosaicism occurs due to abnormal segregation of chromosomes during division of a normal diploid cell to form cells with trisomy (an additional ...