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 δ-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.
Highlights
Cri du Chat Syndrome (CdCS) is a genetic disease resulting from a deletion of the short arm of chromosome 5 (5p-)
The size of the deletion ranges from the entire short arm to the region 5p15 [2]
CdCS is a rare disease with an incidence ranging from 1:15,000 [4] to 1:50,000 [5] live-born infants
Summary
The diagnosis is first of all clinical, based on typical characteristics such as facial dysmorphisms (facial gestalt), transverse flexion creases, hypotonia in combination with the peculiar cat-like cry. Chen et al reported prenatal diagnosis of a foetus with 5p-mosaicism in a case involving advanced maternal age and carried out a review of the literature [88]. In their patient, the mosaic distal 5p deletion was found in association with sonographic markers such as microcephaly and cerebellar hypoplasia [88]. Updated http://www.OJRD.com/content/1/1/33 data have been reported in a recent study on the natural history of CdCS in a large series of Italian patients [19]. Recent improvements in management of patients with CdCS, with the application of rehabilitative programs, have led to increased psychomotor development, improved autonomy and better social adaptation [19]
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