Here, we report a mosaic trisomy 8 patient presenting laryngotracheomalacia, an uncommon finding, analyzing its possible role over morbidity, and mortality. The patient was a boy who, after birth, had tachypnea and paleness. He presented periods of respiratory dysfunction with need of ventilatory ...
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. ...
This young women showed none of the dysmorphic features associated with either trisomy 8 or trisomy 21. Her XY gonadal dysgenesis was manifested by late developmental problems of amenorrhoea, sexual infantilism, and gonadal neoplasia. 展开
(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 ...