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Like many other medical conditions, obesity is the result of an interplay between environmental and genetic factors. [2] [3] Studies have identified variants in several genes that may contribute to weight gain and body fat distribution, although only in a few cases are genes the primary cause of obesity.
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity. [1] 16p11.2 deletion is estimated to account for approximately 1% of autism spectrum disorder cases. [3] [4]
Fat mass and obesity-associated protein, also known as alpha-ketoglutarate-dependent dioxygenase FTO, is an enzyme that in humans is encoded by the FTO gene located on chromosome 16. As one homolog in the AlkB family proteins, it is the first messenger RNA (mRNA) demethylase that has been identified. [ 5 ]
Diploid-triploid mosaicism is a human chromosome disorder.Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells).
Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities. It shows 22 homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (to scale at bottom left).
Obesity has been associated with an inflammatory state, which is chronic and low-grade inflammation, known as meta-inflammation. [6] [7] Meta-inflammation is subclinical meaning that while there is an increase in circulating pro-inflammatory factors, no clinical signs of inflammation, heat, pain, and redness, are seen with meta-inflammation. [8]
Obesity is the accumulation of excess fat on the body. Individuals with Wilson–Turner syndrome are characterized as having truncal obesity, meaning the fat has accumulated in the middle. Truncal obesity is often related to heart disease, kidney disease, and a lowered blood immune system.
MORM syndrome is an autosomal recessive congenital disorder [1] characterized by mental retardation, truncal obesity, retinal dystrophy, and micropenis". [1] The disorder shares similar characteristics with Bardet–Biedl syndrome and Cohen syndrome, both of which are autosomal recessive genetic disorders.