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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.
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 ...
Down syndrome. Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [ 3 ]
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 ...
1 in 4,000 [ 7 ] DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [ 7 ] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate ...
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 ...
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 ...
Cornelia de Lange syndrome. Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.