Search results
Results from the WOW.Com Content Network
The gene is located on the Q or long arm of chromosome 9 and is located near 9q34.3. MORM syndrome is an autosomal recessive congenital disorder [ 1 ] characterized by mental retardation , truncal obesity, retinal dystrophy , and micropenis ". [ 1 ]
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]
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.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Turner syndrome (TS), commonly known as 45,X, or 45,XO, [note 1] is a chromosomal disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
The mechanism is due to maternal meiotic non-disjunction followed by mitotic loss of the paternal chromosome 15 after fertilization. The third cause for PWS is the disruption of the imprinting process on the paternally inherited chromosome 15 (epigenetic phenomena). This disruption is present in approximately 2–5% of affected individuals.
A karyotype of an individual with trisomy 21, showing three copies of chromosome 21. An abnormal number of chromosomes is known as aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.).
Chromosomes in Down syndrome, the most common human condition due to aneuploidy. There are three chromosomes 21 (in the last row). A chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [33] It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes.