Search results
Results from the WOW.Com Content Network
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 (sound sample ). [2] It was first described by Jérôme Lejeune in 1963. [3]
Chromosome 5q deletion syndrome is caused by the deletion of the q arm (long arm) of chromosome 5. This deletion has been linked to several blood related disorders including Myelodysplastic syndrome and Erythroblastopenia. This is a different condition than Cri-du-chat which was mentioned above.
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 ...
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.
Chromosome Mutation Angelman syndrome: 15q DCP Canavan disease: 17p Charcot–Marie–Tooth disease: 17p12 [1] Dup Color blindness: X P 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 ...
Deletion of part of the short arm of chromosome 5 results in Cri du chat syndrome. [1] Deletions in the SMN-encoding gene cause spinal muscular atrophy, the most common genetic cause of infant death. Microdeletions are associated with many different conditions, including Angelman Syndrome, Prader-Willi Syndrome, and DiGeorge Syndrome. [10]
Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. Cri du chat syndrome – (French for "cry of the cat" after the persons' malformed larynx ) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5
Examples of conditions with such an association are fetal alcohol syndrome and the genetic chromosomal abnormalities, such as Down syndrome (chromosome 21), cri du chat syndrome (chromosome 5), Klinefelter syndrome, Wolf–Hirschhorn syndrome, Noonan syndrome (chromosome 12), Patau syndrome (chromosome 13), IDIC 15/Dup15q (chromosome 15 ...