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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 ]
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 ...
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.
Cat eye syndrome; Caudal regression syndrome; Sotos syndrome Cerebral Gigantism; CHARGE syndrome; Chromosome 16 abnormalities; Chromosome 18 abnormalities; Chromosome 20 abnormalities; Chromosome 22 abnormalities; Cleft lip/palate; Cleidocranial dysostosis; Club foot; Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome
In honor of Down Syndrome Awareness Month, which happens every October, we rounded up some informative facts about the chromosomal condition.
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
Narrow face is seen in the following conditions and syndromes: [1] 5p partial monosomy syndrome; Bloom syndrome; Branchiootorenal syndrome 1; Cardiofaciocutaneous syndrome 4 ...
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 ...