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Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. [3][4] Physical features may include a long and narrow face, large ears, flexible fingers, and ...
Trisomy 21. Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) [98] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction. [91] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 ...
3% of newborns (US) [ 8 ] Deaths. 628,000 (2015) [ 9 ] A birth defect[ a ] is an abnormal condition that is present at birth, regardless of its cause. [ 2 ] Birth defects may result in disabilities that may be physical, intellectual, or developmental. [ 2 ] The disabilities can range from mild to severe. [ 6 ]
Utah State’s exit puts the league at seven full members (Hawaii is a partial member only competing in football). The Pac-12, with the addition of Utah State, is at seven full members as well.
Triploid and tetraploid chromosomes are examples of polyploidy. Polyploidy is a condition in which the cells of an organism have more than two paired sets of (homologous) chromosomes. Most species whose cells have nuclei (eukaryotes) are diploid, meaning they have two complete sets of chromosomes, one from each of two parents; each set contains ...
Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction. [1] It affects 1 in 20,000 to 64,000 XY (karyotypically male) births. The condition results in the partial or complete inability of cells to respond to androgens. [2]
Parkinson's disease (PD), or simply Parkinson's, is a neurodegenerative disease of mainly the central nervous system that affects both the motor and non-motor systems of the body. The symptoms usually emerge slowly, and, as the disease progresses, non-motor symptoms become more common. Usual symptoms include tremors, slowness of movement ...
Hearing loss is a partial or total inability to hear. [5] Hearing loss may be present at birth or acquired at any time afterwards. [6] [7] Hearing loss may occur in one or both ears. [2] In children, hearing problems can affect the ability to acquire spoken language, and in adults it can create difficulties with social interaction and at work. [8]