Mosaic trisomy 17: Variable clinical and cytogenetic presentation. American Journal of Medical Ge- netics Part A, 155 (10), 2489-2495. doi: 10.1002/ajmg.a.34172Daber R, Chapman KA, Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB. ...
We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis. Materials and Methods A 42-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age, which revealed a karyo...
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 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...
Coexistence of tetrasomy 8 and trisomy 8 in acute promyelocytic leukemia (AML-M3) with t(15;17)(q22;q12). It is concluded that tetrasomy 8 is secondary cytogenetic event after t(15;17) in this case. It may be a consequence of clonal evolution of trisomy ... HP Wang,LI Guo-Xia,ZH ...
Mosaic down syndrome is a common genetic disorder. The syndrome is related to excessive cell division which causes extra genetic material in Chromosome 21. The genetic disorder varies from person to person and severity. It is one of the common disorders that cause lifelong disabilities especially in...
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...
Biopsied TE cells were subjected to WGA with a Pre-implantation Genetic Screening for Aneuploidy Kit (Berry Genomics Corp., Beijing, China) along with a no-cell reaction serving as the blank control, normal diploids as the negative control, and trisomy 21 as the positive control. A total of...
We report developmental data on a patient prenatally diagnosed with mosaic trisomy 16. At age six years her intellectual functioning, academic achievement,... RJ Simensen,RS Colby,KJ Corning - 《Genetic Counseling》 被引量: 11发表: 2003年 Qualitative weather radar mosaic in a multisensor rainfall...
We present low-level mosaic trisomy 13 at amniocentesis associated with a favorable outcome in a pregnancy. Case report A 39-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+13[8]/46,XY[20]. The wo...