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Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or " call of the cat ") referring to the characteristic cat-like cry of affected children. [ 2 ]
Researchers have defined narrow regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome. A specific region designated 5p15.3 is associated with a cat-like cry, and a nearby region called 5p15.2 is associated with mental retardation, small head (microcephaly), and distinctive facial features.
The chromosomal basis of Cri du chat syndrome consists of a deletion of the most terminal portion of the short arm of chromosome 5. 5p deletions, whether terminal or interstitial, occur at different breakpoints; the chromosomal basis generally consists of a deletion on the short arm of chromosome 5.
5P or 5-P may refer to: 5p, an arm of Chromosome 5 (human) 5p- (or chromosome 5p deletion syndrome); see Cri du chat; 5p, abbreviation for Five pence: Five pence (British decimal coin) Five pence (Irish decimal coin) GSAT-5P, an Indian communications satellite; Team 5P, an animation production team; Lim-5P, a model of PZL-Mielec Lim-6
Some syndromes such as nephrotic syndrome may have a number of underlying causes that are all related to diseases that affect the kidneys. [33] Sometimes a child or young adult may have symptoms suggestive of a genetic disorder that cannot be identified even after genetic testing. In such cases the term SWAN (syndrome without a name) may be ...
Down syndrome, a common chromosomal disease, is caused by trisomy of chromosome 21. Patau syndrome is caused by trisomy of chromosome 13. Trisomy 9, believed to be the 4th most common trisomy, has many long lived affected individuals but only in a form other than a full trisomy, such as trisomy 9p syndrome or mosaic trisomy 9. They often ...
[31] [32] Complete androgen insensitivity syndrome results in a genetic male having a vagina, clitoris, and breasts which are capable of breastfeeding. However, they will not have ovaries or a uterus. Because they do not have ovaries or sufficiently developed testicles, people with complete androgen insensitivity syndrome are infertile. [33]
AF is the number of acentric fragments and F = 0.5 - 0.5P, where P equals the probability of fragments being included in the traditional nucleus and not forming a micronucleus. [ 5 ] One study, which used Giemsa stain to stain nuclear material, established the following criteria for identifying micronuclei: