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The following is a partial list of genes on human chromosome 21. For complete list, see the link in the infobox at the top of the article. ... (partial monosomy 21 ...
Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. Cri du chat syndrome – (French for "cry of the cat" after the persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5
The terms "partial monosomy" and "partial trisomy" are used to describe an imbalance of genetic material caused by loss or gain of part of a chromosome. In particular, these terms would be used in the situation of an unbalanced translocation , where an individual carries a derivative chromosome formed through the breakage and fusion of two ...
A karyotype of an individual with trisomy 21, showing three copies of chromosome 21. An abnormal number of chromosomes is known as aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.).
[1] [2] Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. Micrographic karyogram of human male using Giemsa staining Schematic karyogram demonstrating the basic knowledge needed to read a karyotype
The list of organisms by chromosome count describes ploidy or numbers of chromosomes in the cells of various plants, animals, protists, and other living organisms.This number, along with the visual appearance of the chromosome, is known as the karyotype, [1] [2] [3] and can be found by looking at the chromosomes through a microscope.
The disorder arises from the deletion of part of the small arm of chromosome 17p (which includes both the LIS1 and 14-3-3 epsilon genes), leading to partial monosomy. There may be unbalanced translocations (e.g., 17q:17p or 12q:17p), or the presence of a ring chromosome 17.
A common example is Down syndrome, which is caused by possessing three copies of chromosome 21 instead of the usual two. [9] Partial aneuploidy can also occur as a result of unbalanced translocations during meiosis. [11] Deletions of part of a chromosome cause partial monosomies, while duplications can cause partial trisomies.