Life expectancy can be very short—within minutes or hours of birth (e.g. Edwards’ syndrome (trisomy 18)) – through to the likelihood of death occurring sometime during the childhood years or adulthood (e.g. Duchenne muscular dystrophy; severe cerebral palsy) [18,19,20]. Given the ...
up to the metabolic disorders that appear in adult life and which tend to diminish the life expectancy of women with TS. Similarly, from this perspective, short stature, gonadal dysgenesis, and congenital heart disease, as well as intrauterine growth retardation...
11]. Among them, DNA double-strand breaks (DSB), which are mainly repaired by homologous recombination (HR) and non-homologous end joining (NHEJ), are the most devastating type of DNA damage [12,13].
The immune system, such as all natural cells, is developmentally regulated and changes throughout one’s lifespan. Therefore, the maintenance of this complex system, and its capacity to buffer insults, necessitates the contributions of many genes. Both inherited and somatic variation can impact the...
For example, the initiating chromosomal aberrations comprise the deletion of chromosome 13q (del[13q]) in about 55% of CLL cases and the acquisition of chromosome 12 (trisomy 12) in 10–20% of CLL cases [24]. Epigenetic mutations of DNMT3A, TET2, and ASXL1 have been identified in pre...
life, maturation arrest of granulopoiesis at the promyelocyte stage, and death due to bacterial infections (11 of the 14 initially reported patients died in their first year of life from bacterial infections). Nearly 50 years later, these patients' life expectancy routinely exceeds 20 years and ...
Historically, this has been one of the major causes of reduced life expectancy in individuals with Trisomy 21, whereas advances in diagnosis, treatment, and surgery for CDH in DS individuals has led to a dramatic improvement in survival over the last 60 years [116]. Yet, the genetic and ...
The p53 protein, encoded by the TP53 gene, serves as a critical tumor suppressor, playing a vital role in maintaining genomic stability and regulating cellular responses to stress. Dysregulation of p53 is frequently observed in hematological malignancies
, appears to be distinctive and is mainly represented by mosaic aneuploidies and isochromosomes [80]. Multiple evidence forin vivomosaicism of trisomy 8 and/or 7 and/or 2 [13,19,30,46,98,99] has been found, even in the absence of increased spontaneous chromosomal instability [27]. Among...
Early-onset dementia is common in Down syndrome adults, who have trisomy 21. The amyloid precursor protein gene is on chromosome 21, and so is over-expressed in Down syndrome, leading to amyloid β (Aβ) over-production, a major upstream pathway leading to Alzheimer disease (AD). Statins ...