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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.
21752 Ensembl ENSG00000164362 ENSMUSG00000021611 UniProt O14746 O70372 RefSeq (mRNA) NM_001193376 NM_198253 NM_198254 NM_198255 NM_009354 NM_001362387 NM_001362388 RefSeq (protein) NP_001180305 NP_937983 NP_033380 NP_001349316 NP_001349317 Location (UCSC) Chr 5: 1.25 – 1.3 Mb Chr 13: 73.78 – 73.8 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Telomerase reverse transcriptase ...
This is a different condition than Cri-du-chat which was mentioned above. Other changes in the number or structure of chromosome 5 can have a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other medical problems.
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 ...
Cri du Chat (CdC) is a syndrome caused by a partial deletion of the short arm of chromosome 5. [24] Several studies have shown that conventional CGH is suitable to detect the deletion, as well as more complex chromosomal alterations.
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]
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