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• W4300825991 endingPage "180" @default.
• W4300825991 startingPage "135" @default.
• W4300825991 abstract "There is a great deal of variability in phenotypic characteristics and severity of disease expression among individuals with Down syndrome (DS), though all of them carry trisomy 21 (HSA21) in their genome. The molecular dissection of the HSA21 genes has been restricted to limited number of human samples and partial trisomies in particular, for identification of the phenotype-specific genes. The HSA21 genes have been linked to DS-specific features with the advent of technology but still vary among DS individuals in different context of co-expression of non HSA21 or disomic genes. Expression of HSA21 genes differs greatly in different tissues at different developmental ages. The interplay among the genes contributes significantly against the backdrop of variable genomic background and polymorphisms. A number of mouse models have been produced with HSA21 orthologs: segmental trisomies, whole of HSA21, deletion/duplication, knockout or transgenic—all toward establishing a precise genotype–phenotype association. This chapter has discussed the contribution of trisomic and non-HSA21 genes on the expression of the prominent DS features such as craniofacial malformation, cardiac defects, leukemia, solid tumors, and development of cognitive, learning and memory functions. Although DS features and gene expression have been described in previous chapters (2 and six respectively), the present chapter is unique to demonstrate the recent information on the phenotype-specific genes." @default.
• W4300825991 created "2022-10-04" @default.
• W4300825991 creator A5091846821 @default.
• W4300825991 date "2022-01-01" @default.
• W4300825991 modified "2023-10-16" @default.
• W4300825991 title "Development of specific phenotypes and genetic consequences in Down syndrome" @default.
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