Synonyms
Cat cry syndrome; 5p deletion syndrome; 5p syndrome; 5p monosomy
Definition and Characteristics
Cri-du-chat syndrome is a chromosomal aberration syndrome of partial deletions on the short arm of chromosome 5, and was first reported by Lejune et al in 1963. The deleted size can vary among patients: it can be so small as to be detected only by fluorescent in situ hybridization (FISH) analysis using the probes located on 5p15.2 or p15.3, or beyond the entire short arm. The critical chromosomal region is suggested to be 5p15.2–5p15.3, and major clinical features are high-pitched cat-like cry, mental retardation, microcephaly, hypertelorism and epicanthal folds [1].
Prevalence
Cri-du-chat syndrome is one of the most common human chromosomal deletion syndromes [1]. The incidence is between 1:15,000 and 1:50,000. The prevalence may be as high as 1% among the population of profound mental retardation. Sex ratio (male/female) is 0.72.
Molecular and Systemic Pathophysiology
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References
Niebuhr E (1978) The Cri du Chat syndrome: epidermology cytogenetics, and clinical features. Hum Genet 44:227–275
Gersh M et al. (1995) Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet 56:1404–1410
Church DM et al. (1997) A high-resolution physical and transcript map of cri du chat region of human chromosome 5p. Genome Res 7:787–801
Kondoh T et al. (2005) Genotype–phenotype correlation of 5p-syndrome: pitfall of diagnosis. J Hum Genet 50:26–29
Zhang X et al. (2005) High-resolution mapping of genotype–phenotype relationship in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet 76:312–326
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Kondoh, T., Shimokawa, O., Harada, N., Moriuchi, H. (2009). Cri-du-Chat Syndrome (Chromosome 5 Short Arm Deletion). In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_426
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DOI: https://doi.org/10.1007/978-3-540-29676-8_426
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