Chromosome 5p deletion syndrome

Definition:

The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. SEMAF/ SEMA5A and CTNND2 have been mapped to the critical regions, and their deletion may be associated with mental retardation in CdCS patients. The TERT deletion may contribute to the phenotypic changes in CdCS.

References:

[1]. A D Simmons, et al. Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval. Biochem Biophys Res Commun. 1998 Jan 26;242(3):685-91. [Content Brief]

[2]. M Medina, et al. Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics. 2000 Jan 15;63(2):157-64. [Content Brief]

[3]. Paola Cerruti Mainardi, et al. Cri du Chat syndrome. Orphanet J Rare Dis. 2006 Sep 5;1:33. [Content Brief]

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