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PMID: 16953888 Published · epublish English Journal Article Research Support, Non-U.S. Gov't Review

Cri du Chat syndrome.

Orphanet journal of rare diseases ·Vol. 1 ·2006-09-05 ·Pages 33

Cerruti Mainardi P

Abstract

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 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. 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. Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism. Molecular cytogenetic analysis has allowed a cytogenetic and phenotypic map of 5p to be defined, even if results from the studies reported up to now are not completely in agreement. Genotype-phenotype correlation studies showed a clinical and cytogenetic variability. The identification of phenotypic subsets associated with a specific size and type of deletion is of diagnostic and prognostic relevance. Specific growth and psychomotor development charts have been established. Two genes, Semaphorin F (SEMAF) and delta-catenin (CTNND2), which have been mapped to the "critical regions", are potentially involved in cerebral development and their deletion may be associated with mental retardation in CdCS patients. Deletion of the telomerase reverse transcriptase (hTERT) gene, localised to 5p15.33, could contribute to the phenotypic changes in CdCS. The critical regions were recently refined by using array comparative genomic hybridisation. The cat-like cry critical region was further narrowed using quantitative polymerase chain reaction (PCR) and three candidate genes were characterised in this region. The diagnosis is based on typical clinical manifestations. Karyotype analysis and, in doubtful cases, FISH analysis will confirm the diagnosis. There is no specific therapy for CdCS but early rehabilitative and educational interventions improve the prognosis and considerable progress has been made in the social adjustment of CdCS patients.

MeSH Terms
Catenins Cell Adhesion Molecules/genetics Chromosome Deletion Chromosomes, Human, Pair 5/genetics Cri-du-Chat Syndrome/genetics,pathology Genetic Predisposition to Disease Humans Infant, Newborn Phosphoproteins/genetics Semaphorins/genetics Telomerase/genetics
Chemicals
Catenins Cell Adhesion Molecules Phosphoproteins Semaphorins delta catenin Telomerase
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Cerruti Mainardi Paola
Paediatrics Department and Genetics Unit, S.Andrea Hospital, Vercelli, Italy. [email protected]
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Article Info
Journal
Orphanet journal of rare diseases
Abbr.
Orphanet J Rare Dis
ISSN
1750-1172
DOI
10.1186/1750-1172-1-33
Email
[email protected]
Published
2006-09-05
Epub
2006-00-05
Pages
33
Language
English
Region
England
NLM ID
101266602
PMCID
PMC1574300
Subset
IM
Grants
Telethon · E.0511 · Italy
External Links
PubMed source DOI: 10.1186/1750-1172-1-33 PMC Full Text View journal details
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