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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.
Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.
Syndrome X may refer to: Groups of symptoms, so called as placeholder name, when newly discovered: Cardiac syndrome X; Metabolic syndrome; Neotenic complex syndrome, such as identified in Brooke Greenberg; Acute radiation syndrome, upon its recognition in 1945
Trigeminal trophic syndrome; Triple X syndrome; Triploid syndrome; Trisomy 8; Tropical splenomegaly syndrome; Trotter's syndrome; Truman Syndrome; Tsukuhara syndrome; Tumor lysis syndrome; Tumor necrosis factor receptor associated periodic syndrome; Turner syndrome; Twiddler's syndrome; Twin Anemia-Polycythemia Sequence; Twin-to-twin ...
The use of the term cardiac syndrome X (CSX) can lead to the lack of appreciation of how microvascular angina is a debilitating heart related pain condition with the increased risk of heart attack and other heart problems. Women may have difficulty accessing the specialist care of a cardiologist for this reason. [citation needed]
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.
Macroorchidism is a disorder found in males, specifically in children, where a subject has abnormally large testes.The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1]
Sherman theorized that the gene responsible for fragile X syndrome becomes mutated through a two-step process. The first mutation, called the 'premutation', doesn't cause any clinical symptoms. A second mutation was required to convert the 'premutation' into a 'full mutation' capable of causing the clinical symptoms associated with fragile X ...