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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.
Jérôme Jean Louis Marie Lejeune (French pronunciation: [ʒeʁom ʒɑ̃ lwi maʁi ləʒœn]; 13 June 1926 – 3 April 1994) was a French pediatrician and geneticist, best known for his work on the link of diseases to chromosome abnormalities, most especially the link between Down Syndrome and trisomy-21 and cri du chat syndrome, amongst several others, and for his subsequent strong opposition ...
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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
The most important signs and symptoms of compartment syndrome are observable before actual contracture. What is known as the five Ps of compartment syndrome include: pain, generally the initial symptom, accompanied by pulselessness, pallor, paralysis, and paraesthesias. Pain will likely also increase upon extension of the affected limbs hands ...
It was published at the request of the Medical Society of London and was a transcript of three lectures along with fifteen papers Down published on mental defects. The book details his ideas and findings about several mental abnormalities such as Down syndrome and microcephaly and savant syndrome (naming it "idiot savantism"). It also contains ...
Glycogen storage disease type V (GSD5, GSD-V), [1] also known as McArdle's disease, [2] is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase.