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• W4293116440 abstract "The triplication of chromosome 21 (HSA21) is responsible for orchestrating the typical features in individuals with Down syndrome (DS). Starting from having a specific facial geography till their senescence is full of health complications throughout life. With as many as 80 phenotypes, the unique craniofacial features, short stature, muscle hypotonia, hallux varus, intellectual disability (with variable degree), and early onset of Alzheimer disease leading to early aging and dementia are constant features present in all individuals with DS, while remaining are variable but affecting majority of the DS individuals. Among the variable phenotypes, atlantoaxial instability, reduced neuronal density, congenital heart defects (CHDs: ASD/VSD), Hirschsprung disease, impairment of hearing and vision, autoimmune disorders, leukemia, and sleep apnea are not observed in all births with DS; however, these symptoms may develop in some of the individuals during life time. Taken together, DS features—constant or variable, vary in quantum in terms of presence or absence and frequency of DS individuals affected, though all DS individuals carry trisomic HSA21 (full, mosaic, partial). Nevertheless, patients with DS are at many-fold increased risk of duodenal atresia, acute megakaryocytic leukemia (AMKL), Hirschsprung disease, anxiety disorders, infection, and so on. Notably, DS population in the United Kingdom was presented with a 4-fold increased risk of hospitalization and a 10-fold increased risk of fatality related to coronavirus disease 2019 (COVID-19) infection during the prevailing severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. The infection rate was three times higher in DS adults than the general population. DS individuals of the present era live longer (≥60 years) than before (25 years in 80s). Despite poor fertility, males are less fertile than females due mainly to anatomical defects and inadequate spermatogenesis. Parents' awareness, facility at special schools, health monitoring, and surveillance are enormously contributing to DS individuals for developing professional skills with increased memory functions and improving the quality of life. Nonetheless, complex genetic interactions of gene–dosage imbalance with disomic genome in variable inherent genomic background confer variable phenotypes to DS individuals. However, the patho-mechanism could not be unzipped even after 6 decades of understanding the genetic etiology of DS." @default.
• W4293116440 created "2022-08-26" @default.
• W4293116440 creator A5091846821 @default.
• W4293116440 date "2022-01-01" @default.
• W4293116440 modified "2023-09-27" @default.
• W4293116440 title "Implications of trisomy 21 on congenital features and health aspects" @default.
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