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48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell.Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics.
In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome aneuploidies to be discovered, two years after the discoveries of 47,XXY, [27] 45,X [28] and 47,XXX [29] in 1959. Even the much less common 48,XXYY [30] had been discovered in 1960, a year before 47,XYY.
This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in approximately one in 500 live male births. [4] [14] [37] In mammals with more than one X chromosome, the genes on all but one X chromosome are not expressed; this is known as X inactivation. This happens in XXY males, as well as ...
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.
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 ]
Offspring have two sex chromosomes: an offspring with two X chromosomes (XX) will develop female characteristics, and an offspring with an X and a Y chromosome (XY) will develop male characteristics, except in various exceptions such as individuals with Swyer syndrome, that have XY chromosomes and a female phenotype, and de la Chapelle Syndrome ...
Pathophysiology of obesity is the study of disordered physiological processes that cause, result from, or are otherwise associated with obesity. A number of possible pathophysiological mechanisms have been identified which may contribute in the development and maintenance of obesity.
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 ...