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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.
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 following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Karyotype of X monosomy (Turner syndrome) This condition is characterized by the presence of only one X chromosome and no Y chromosome (see bottom right corner). Complete loss of an entire X chromosome accounts for about half the cases of Turner syndrome .
Fetal alcohol syndrome; First arch syndrome; Focal femoral hypoplasia; Gastrointestinal atresia; Gastroschisis; Holoprosencephaly; Hydranencephaly; Hydronephrosis; Hydrops fetalis; Hypoplastic left heart syndrome; Infantile polycystic kidney disease; Iniencephaly; Intracranial teratoma; Intrauterine growth retardation; Klippel–Trénaunay ...
Turner syndrome is a condition in females in which there is partial or complete loss of one X chromosome. This causes symptoms such as growth and sexual development problems. In 15% of Turner syndrome patients, the structural abnormality is isochromosome X, which is composed of two copies of the q arm (i(Xq)).
Pink eye is among the most unwanted and common infections around. The swollen red eyes, dried pus, and sticky discharge is enough to make anyone suffering with the condition want to avoid being ...
[citation needed] An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; the disorder is therefore also called "trisomy 21". [7] An example of monosomy in humans is Turner syndrome, where the individual is born with only one sex chromosome, an X. [8]