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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 ...
[5] [6] Aneuploidy can be full, involving a whole chromosome missing or added, or partial, where only part of a chromosome is missing or added. [5] Aneuploidy can occur with sex chromosomes or autosomes. [citation needed] Rather than having monosomy, or only one copy, the majority of aneuploid people have trisomy, or three copies of one chromosome.
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
CIN often results in aneuploidy. There are three ways that aneuploidy can occur. It can occur due to loss of a whole chromosome, gain of a whole chromosome or rearrangement of partial chromosomes known as gross chromosomal rearrangements (GCR). All of these are hallmarks of some cancers. [13]
Aneuploidy is the condition in which the chromosome number in the cells is not the typical number for the species. This would give rise to a chromosome abnormality such as an extra chromosome or one or more chromosomes lost. Abnormalities in chromosome number usually cause a defect in development.
Euploidy and aneuploidy describe having a number of chromosomes that is an exact multiple of the number of chromosomes in a normal gamete; and having any other number, respectively. For example, a person with Turner syndrome may be missing one sex chromosome (X or Y), resulting in a (45,X) karyotype instead of the usual (46,XX) or (46,XY).
Karyotype of a human with Trisomy 21 (Down syndrome). Trisomies can occur with any chromosome, but often result in miscarriage rather than live birth.For example, Trisomy 16 is most common in human pregnancies, occurring in more than 1%, but the only surviving embryos are those having some normal cells in addition to the trisomic cells (mosaic trisomy 16). [3]
A contiguous gene syndrome (CGS), also known as a contiguous gene deletion syndrome, is a clinical phenotype caused by a chromosomal abnormality, such as a deletion or duplication that removes several genes lying in close proximity to one another on the chromosome. The combined phenotype of the patient is a combination of what is seen when any ...