How does mosaicism for trisomy 21 affect the expression of these key genes and the resulting phenotype?

Down's syndrome is the commonest identifiable cause of intellectual disability, accounting for around 15-20% of the intellectually disabled population. It is ... Mar 27, 2023 ... There is no clear cause of the genetic condition, although maternal age is a major risk factor for Down syndrome. Women who become pregnant at ... Apr 12, 1994 ... In addition, Dr. Lejeune was a pioneer in clinical cytogenetics and carried out numerous clinical and biochemical studies of people with Down ... Research and analysis Close Health topics Global Burden of Disease (GBD) study Health by location Health policy and planning Data tools and practices Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Summary · Down syndrome is a common genetic condition caused by an extra chromosome 21. · Every person with Down syndrome is an individual. · People with Down ... Oct 27, 2023 ... Hypotonia often causes babies with Down syndrome to appear “floppy.” The poor muscle tone can and often does improve with age and physical ... Down syndrome is a genetic disorder. It includes certain birth defects, learning problems, and facial features. A child with Down syndrome also may have heart ... Down syndrome is a genetic condition caused by extra copies of chromosome 21. It results in certain characteristics, including some degree of cognitive ... Jan 7, 2025 ... This study addresses fundamental questions surrounding otitis media effusion in Down syndrome, identifying DYRK1A as a key gene involved in the condition.