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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 ]
Prader–Willi (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders caused by chromosomal deletions, uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. Whether an individual exhibits PWS or AS depends on if there is a lack of the paternally expressed gene to contribute to the region.
Changes to chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 5p or 5q), a missing segment of the long arm of the chromosome in each cell (partial monosomy 5q), and a circular structure called ring chromosome 5. A ring chromosome occurs when both ends of a broken chromosome are ...
A large number of these groups that can be characteristic of a particular disease are known as a syndrome. Noonan syndrome for example, has a diagnostic set of unique facial and musculoskeletal features. [32] Some syndromes such as nephrotic syndrome may have a number of underlying causes that are all related to diseases that affect the kidneys ...
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
A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb).
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 ...
Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges. The typical features of CdLS include thick or long eyebrows , a small nose , small stature, developmental delay, long or smooth philtrum , thin upper lip and downturned mouth .