the simultaneous presence in an organism of two or more varieties of homotypic cells differing in genetic structure, or genotype, and (or) in their manifestation of genes in the phenotype. Thus, in mosaicism, characters that are usually mutually exclusive (sex characters, color, biochemical feature...
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...
Using CRISPR Cas9, Δ32 mutations precisely matching the naturally occurring homozygous CCR5Δ32 genotype were generated. The monocytes/macrophages derived from CCR5Δ32 mutation pluripotent stem cells were resistant to HIV-1 infection. In other studies, the CRISPR-Cas9 system was reportedly useful for...
Evaluation of the phenotypical effect of rare chromosomal aberrations is challenging and each additional case is valuable for refinement of the genotype-phenotype correlation. Moreover, our patient demonstrates that if the phenotype is severe and if the level of sSMC mosaicism is low in lymphocytes,...
Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analy- sis. Clin Chem 2006;52:1492–1500. 38. Zhou Y, Law HY, Boehm CD, Kiing J, Tay SK, Chong SS. Robust fragile X (CGG)n genotype classification using a methylation specific triple ...
Evaluation of the phenotypical effect of rare chromosomal aberrations is challenging and each additional case is valuable for refinement of the genotype-phenotype correlation. Moreover, our patient demonstrates that if the phenotype is severe and if the level of sSMC mosaicism is low in lymphocytes,...
1.Laparoscopic bilateral gonadectomy in a case of turner syndrome with 45XO/46XY genotype[J].Nitin H. Shah,Riddhi J. Shah,Swapnali KshirsagarInternational Journal of Reproduction, Contraception, Obstetrics and Gynecology .2018,第3期 机译:45XO / 46XY基因型特纳综合征的腹腔镜双侧性腺切除术 ...
Meiotic behavior of aneuploid chromatin in mouse models of Down syndrome In all three models examined, the trisomic region lacks a pairing partner, but in one case, spermatocytes have an extra (and unpaired) chromosome, while... LG Reinholdt,A Czechanski,S Kamdar,... - 《Chromosoma》 被引...
(2) 491 mosaic variants identified from 358 parents or grandparents (137 men, 193 women, and 28 cases with gender information not available from the original publications) of the probands who had transmitted the mosaic allele to their offspring for a heterozygous genotype that lead to disease ...