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Human conditions due to monosomy: Turner syndrome – Females with Turner syndrome typically have one X chromosome instead of the usual two X chromosomes. 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.
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.
Also monosomies can present with some form of mosaicism. The only non-lethal full monosomy occurring in humans is the one causing Turner's syndrome. Around 30% of Turner's syndrome cases demonstrate mosaicism, while complete monosomy (45, X) occurs in about 50–60% of cases. Mosaicism isn't necessarily deleterious, though.
The Saint Marys Campus houses the 148-bed Mayo Eugenio Litta Children's Hospital, offering multidisciplinary pediatric and adolescent care to infants, children, teens, and young adults aged 0–21. [ 13 ] [ 2 ] Mayo Clinic Children's Center includes providers from over 40 medical and surgical specialties.
Chromosome 16. Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. [1] It is the most common autosomal trisomy leading to miscarriage, and the second most common chromosomal cause (closely following X-chromosome monosomy). [2]
Down syndrome or Down's syndrome, [12] 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] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.
The prognosis of trisomy X is broadly good, with adult independence most often achieved, if delayed. Most adults achieve normal life outcomes, pursuing education, employment, or homemaking. [40] Childhood and adolescence, particularly in compulsory education, tends to be more difficult for those with trisomy X than adult life.
A small percentage of cases occur when only some of the body's cells have an extra copy of chromosome 18, resulting in a mixed population of cells with a differing number of chromosomes. Such cases are sometimes called mosaic trisomy 18. Very rarely, a piece of chromosome 18 becomes attached to another chromosome (translocated) before or after ...