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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 ...
Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q) of chromosome 13 is missing (monosomic). Infants born with partial monosomy 13q may exhibit low birth weight, malformations of the head and face (craniofacial region), skeletal abnormalities (especially of the hands ...
[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 (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.
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).
Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age.
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. If the duplication or deletion is large enough, it can be discovered by analyzing a karyogram of the individual.