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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.
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.
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
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 ...
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 ...
Chromosome 5q deletion syndrome is an acquired, hematological disorder characterized by loss of part of the long arm (q arm, band 5q33.1) of human chromosome 5 in bone marrow myelocyte cells. This chromosome abnormality is most commonly associated with the myelodysplastic syndrome .
Two different genes, each with five exons and four introns, designated as SRD5A1 and SDR5A2, encode two different 5α-reductases. The human 5α-reductase-2 gene (SRD5A2) is located on the short arm of chromosome 2 at band 23 and encodes a 254 amino acid protein, called 5α-reductase type 2.