This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of
clinical features commonly known as Down syndrome (DS). DS is among the most …

Tissue culture of immortal cell strains from diseased patients is an invaluable resource for
medical research but is largely limited to tumor cell lines or transformed derivatives of native …

Background Alzheimer's disease and its complications are the leading cause of death in
adults with Down syndrome. Studies have assessed Alzheimer's disease in individuals with …

The oocyte is recognised as the largest cell in mammalian species and other multicellular
organisms. Mitochondria represent a high proportion of the cytoplasm in oocytes and …

Individuals with Down syndrome (DS) commonly possess unique neurocognitive and
neurobehavioral profiles that emerge within specific developmental periods. These profiles …

Increases in the life expectancy of people with Intellectual Disability have followed similar
trends to those found in the general population. With the exception of people with severe …

Improvements in medical interventions for people with Down's syndrome have led to a
substantial increase in their longevity. Diagnosis and treatment of neurological …

Mistakes during cell division frequently generate changes in chromosome content,
producing aneuploid or polyploid progeny cells. Polyploid cells may then undergo abnormal …

Aneuploidy, chromosome stoichiometry that deviates from exact multiples of the haploid
compliment of an organism, exists in eukaryotic microbes, several normal human tissues …