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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] 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.
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 ...
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]
They have discovered, however, that a larger deletion tends to result in more severe mental retardation and developmental delays in people with cri-du-chat syndrome. [13] [14] [15] Researchers have defined narrow regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome.
Cri du chat syndrome: 5 D Cystic fibrosis: 7q P DiGeorge syndrome: 22q D Down syndrome: 21 C Duchenne muscular dystrophy: Xp D Familial hypercholesterolemia: 19 P Haemochromatosis type 1: 6 P Hemophilia: X P Klinefelter syndrome: X C Neurofibromatosis: 17q/22q/? Phenylketonuria: 12q P Polycystic kidney disease: 16 or 4 P Prader–Willi syndrome ...
Are there any cases of children with cri-du-chat fathers? —Preceding unsigned comment added by 220.245.132.115 ( talk ) 09:47, 22 March 2008 (UTC) [ reply ] My unborn son has been diagnosed with chri-du-chat & other than what I read on internet, I just don't know much about & they are telling me won't know sevierety until birth.
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.