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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]
Monogenic obesity is excess weight caused by a mutation in a single gene, as opposed to syndromic obesity not tied to a single gene variation and most obesity, which is caused by multiple genetic and environmental risk factors. Monogenetic obesity mostly affects the hypothalamus and leptin–melanocortin system (see hypothalamic obesity ...
Klinefelter’s syndrome occurs when a man is born with one or more extra X chromosomes, leading to a variety of impacts that include underdeveloped testicles, impaired testosterone production ...
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).
Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip. Individuals with this disease may often have ...
Obesity BMI. The National Heart, Lung, and Blood Institute defines obesity as a body mass index (BMI) of 30 or more. BMI is a measurement of body fat based on a person’s height and weight. An ...
It consists of 22 autosomes plus one copy of the X chromosome and one copy of the Y chromosome. It contains approximately 3.1 billion base pairs (3.1 Gb or 3.1 x 10 9 bp). [ 6 ] This represents the size of a composite genome based on data from multiple individuals but it is a good indication of the typical amount of DNA in a haploid set of ...