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GENATLAS PHENOTYPE
last update : 13/11/2006
Symbol CDCS
Location 5p
Name Cri-du-Chat syndrome
Other name(s) 5p-, 5p deletion, 5p monosomy
Corresponding gene SEMA5A , CTNND2
Other symbol(s) DEL5P, CdCS
Main clinical features
  • high-pitched cat-like cry in infants, abnormal voice in older patients . microcephaly, round face, flat nasal bridge, hypertelorism, epicanthal fold, downslanting palpebral fissures, low-set ears, micrognathia. Facial phenotype change with age. . growth retardation, hypotonia then hypertonia, usually severe psychomotor and speech retardation, malformations not very frequent
    • Genetic determination chromosomal
    Related entries DEL5PD
    Function/system disorder mental retardation
    multisystem/generalized
    Type MCA/MR
    Gene product
    Name large number of contiguous genes
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency variable size (5-40Mb), mostly terminal but also interstitial deletions, FISH may be useful to detect cryptic deletions
      other haploinsufficiency unbalanced translocations or other chromosomal rearrangements
    Genotype/Phenotype correlations band p15.2 is implicated in facies features, severe mental-developmental delay and band p15.3 in high-pitched cry