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[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.
Partial monosomy can occur in unbalanced translocations or deletions, in which only a portion of the chromosome is present in a single copy (see deletion (genetics)). Monosomy of the sex chromosomes (45,X) causes Turner syndrome. 2: Disomy: Disomy is the presence of two copies of a 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
Many organ systems are affected by triploidy, but the central nervous system and skeleton are the most severely affected: . Common central nervous system defects seen in triploidy include holoprosencephaly, hydrocephalus (increased amount of cerebrospinal fluid within the brain), ventriculomegaly, Arnold–Chiari malformation, agenesis of the corpus callosum and neural tube defects.
[1] [2] One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. [3] Streak gonads are a form of aplasia , resulting in hormonal failure that manifests as sexual infantism and infertility , with no initiation of puberty and secondary sex characteristics .
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]
The number of chromosomes in the cell where trisomy occurs is represented as, for example, 2n+1 if one chromosome shows trisomy, 2n+1+1 if two show trisomy, etc. [2] "Full trisomy", also called "primary trisomy", [2] means that an entire extra chromosome has been copied. "Partial trisomy" means that there is an extra copy of part of a chromosome.
Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, 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.