孕妇在妊娠25周时再度做羊水穿刺复检,结果培养羊水细胞显示30%异常mosaic trisomy 15,未培养羊水细胞DNA经过QF-PCR检测,排除UPD(15),但证实有父源的镶嵌型三染色体15,而羊水基因芯片aCGH检查则显示有75%异常mosaic trisomy 15,同时未培养羊水细胞经FISH检查显示有45%异常mosaic trisomy 15。超音波检查则是正常。 孕...
mosaic trisomy 15Prader-Willi syndromeprenatal testingBackground Chromosome abnormalities are a frequent finding in prenatal invasive testing for fetal malformations and/or growth retardation. Case presentation We present a case of low level (8%) mosaic trisomy 15 detected on amniocentesis after fetal ...
With only a small number of cases in the medical literature, mosaic trisomy 15 in liveborn infants is very rare. Despite its rarity, similar features among individuals have been described, including intrauterine growth retardation, craniofacial abnormalities and facial dysmorphisms, cardiac disease, an...
Trisomy 15 conceptions are usually aborted spontaneously in the first trimester of pregnancy. The longer survival of this fetus is most probably the result of a chromosome 15 loss from the trisomic zygote. To the best of our knowledge, the presence of this lethal trisomy has been reported in ...
A. (2000). Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15. Am J Med Genet 93(3):215-8.Olander E, Stamberg J, Steinberg L, Wulfsberg EA. Third Prader- Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15...
(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 ...
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. ...
To the best of our knowledge, the presence of this lethal trisomy has been reported in only five live-born infants, and in five fetuses including the present case, it was detected prenatally and the pregnancies were terminated. 展开 关键词: trisomy 15 trisomy saicism survival chromosome 15 ...
Mosaic Down syndrome is a rare form of Down syndrome that can cause significant challenges. While those with mosaic Down syndrome have a mix of affected and unaffected cells, it can be impossible to tell how the extra genetic material will affect someone. However, the condition can have signifi...
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 ...