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Book

Cri Du Chat Syndrome

Anitha Ajitkumar  1 , Radia T. Jamil  2 , Josephin K. Mathai  3
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Book

Cri Du Chat Syndrome

Anitha Ajitkumar et al.
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Excerpt

Cri du chat syndrome is a genetic disorder caused by a deletion of the short arm of chromosome 5. The name of the syndrome, meaning cat cry, was coined after the main clinical finding of a high-pitched, monochromatic cat-like cry. The clinical picture, severity, and progression of the disease vary depending on the region of the chromosome deleted and whether it is terminal or interstitial. In other words, differences in phenotype are attributable to the differences in genotype. This disorder characteristically presents with distinctive facial features, delayed development, and intellectual disability.

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Conflict of interest statement

Disclosure: Anitha Ajitkumar declares no relevant financial relationships with ineligible companies.

Disclosure: Radia Jamil declares no relevant financial relationships with ineligible companies.

Disclosure: Josephin Mathai declares no relevant financial relationships with ineligible companies.

References

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    1. Rodríguez-Caballero A, Torres-Lagares D, Rodríguez-Pérez A, Serrera-Figallo MA, Hernández-Guisado JM, Machuca-Portillo G. Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal. 2010 May 01;15(3):e473-8. - PubMed
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    1. Corrêa T, Feltes BC, Riegel M. Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome. Genet Mol Biol. 2019;42(1 suppl 1):186-196. - PMC - PubMed
    1. Liverani ME, Spano A, Danesino C, Malacarne M, Cavani S, Spunton M, Guala A. Children and adults affected by Cri du Chat syndrome: Care's recommendations. Pediatr Rep. 2019 Feb 26;11(1):7839. - PMC - PubMed

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