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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 (sound sample ). [2] It was first described by Jérôme Lejeune in 1963. [3]
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.
This is a different condition than Cri-du-chat which was mentioned above. Other changes in the number or structure of chromosome 5 can have a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other medical problems.
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.
Cri du chat (cry of the cat), from a truncated short arm on chromosome 5. The name comes from the babies' distinctive cry, caused by abnormal formation of the larynx. 1p36 Deletion syndrome, from the loss of part of the short arm of chromosome 1.
Deletion of part of the short arm of chromosome 5 results in Cri du chat syndrome. [1] Deletions in the SMN-encoding gene cause spinal muscular atrophy, the most common genetic cause of infant death. Microdeletions are associated with many different conditions, including Angelman Syndrome, Prader-Willi Syndrome, and DiGeorge Syndrome. [10]
This is an accepted version of this page This is the latest accepted revision, reviewed on 23 December 2024. DNA molecule containing genetic material of a cell This article is about the DNA molecule. For the genetic algorithm, see Chromosome (genetic algorithm). Chromosome (10 7 - 10 10 bp) DNA Gene (10 3 - 10 6 bp) Function A chromosome and its packaged long strand of DNA unraveled. The DNA's ...
However, in rare cases, it can have notable and serious effects on overall health, physical appearance, and other traits. Disorders that most commonly involve de novo mutations include cri-du-chat syndrome, 1p36 deletion syndrome, genetic cancer syndromes, and certain forms of autism, among others. [2]