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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 ...
Savant syndrome (/ ˈsævənt, sæˈvɑːnt / SAV-ənt, sə-VAHNT, US also / səˈvɑːnt / sav-AHNT) is a phenomenon where someone demonstrates exceptional aptitude in one domain, such as art or mathematics, despite significant social or intellectual impairment. [1]
Down syndrome is a genetic disorder that often results in distinct physical differences and intellectual disability. According to the Centers for Disease Control, each year about 6,000 babies are ...
Intellectual disability (ID), also known as general learning disability (in the United Kingdom [3]) and formerly mental retardation (in the United States [4]), [5][6] is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood.
March 21 (3/21) is World Down Syndrome Day, chosen because people with Down Syndrome have three copies of the 21st chromosome instead of the usual two. "Gabe lives his life to the fullest," Nick ...
Of these, only individuals with Lesch–Nyhan syndrome, de Lange syndrome, and familial dysautonomia recurrently display loss of tissue as a consequence. Biting the fingers and lips is a definitive feature of Lesch–Nyhan syndrome; in other syndromes associated with self-injury, the behaviors usually consist of head banging and nonspecific ...
The estimate suggests that the condition is slightly less common than Rett syndrome, a genetic disorder that causes babies to rapidly lose coordination, speech and mobility and affects about 1 in ...
It is characterized by short stature, epicanthal folds, abnormal fingerprints, and palm prints, heart defects, poor muscle tone (delay of neurological development), and intellectual disabilities (delay of intellectual development). [42] Less commonly known genetically determined neurodevelopmental disorders include Fragile X syndrome.