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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]
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.
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.
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]
Cri du chat. 5q deletion syndrome. Trisomy 5: 6 Trisomy 6: 7 Williams syndrome: Trisomy 7: 8 Monosomy 8p Monosomy 8q Trisomy 8: 9 Alfi's syndrome. Kleefstra syndrome. Trisomy 9: 10 Monosomy 10p Monosomy 10q Trisomy 10: 11 Jacobsen syndrome: Trisomy 11: 12 Trisomy 12: 13 Patau syndrome: 14 Trisomy 14: 15 Angelman syndrome. Prader–Willi ...
Cri du chat syndrome (CdCS) is a complex disorder involving the loss of the distal portion of the short arm of chromosome 5. TERT is located in the deleted region, and loss of one copy of TERT has been suggested as a cause or contributing factor of this disease. [74]
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; 1p36 deletion syndrome – a partial monosomy caused by a deletion at the end of the short arm of chromosome 1
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.