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Chromosomal translocation. Chromosomal reciprocal translocation of the 4th and 20th chromosome. In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation.
In those who reach 60 years of age, 50–70% have the disease. [9] Down syndrome regression disorder is a sudden regression with neuropsychiatric symptoms such as catatonia, possibly caused by an autoimmune disease. [54] It primarily appears in teenagers and younger adults. [55]
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 ...
Emanuel syndrome, also known as derivative 22 syndrome, or der(22) syndrome, is a rare disorder associated with multiple congenital anomalies, including profound intellectual disability, preauricular skin tagsor pits, and conotruncalheart defects. [1][2]It can occur in offspring of carriers of the constitutional chromosomal translocation t(11 ...
Robertsonian translocation (ROB) is a chromosomal abnormality where the entire long arms of two different chromosomes become fused to each other. It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 babies born. [1] It does not usually cause medical problems, though some people may produce gametes ...
Patau syndrome. Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects. This can occur either because each cell contains a full extra copy ...
Henry Turner. Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which females 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. [ 2 ][ 6 ][ 7 ] Most ...
Trisomy 22 is a chromosomal disorder in which three copies of chromosome 22 are present rather than two. It is a frequent cause of spontaneous abortion during the first trimester of pregnancy. Progression to the second trimester and live birth are rare. This disorder is found in individuals with an extra copy or a variation of chromosome 22 in ...