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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cri du chat syndrome


Other Names for this Disease

  • 5p deletion syndrome
  • 5p minus syndrome
  • 5p- syndrome
  • Cat cry syndrome
  • Chromosome 5p deletion syndrome
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Inheritance

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Is cri du chat syndrome inherited?

Most cases of cri du chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most affected individuals do not have a history of the disorder in their family.[1] 

About 10 percent of people with cri du chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations  usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri du chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5. This results in the intellectual disability and other health problems characteristic of the disorder.[1]
Last updated: 4/7/2014

References
  1. Cri-du-chat syndrome. Genetics Home Reference (GHR). February 2014; http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome. Accessed 4/7/2014.


Other Names for this Disease
  • 5p deletion syndrome
  • 5p minus syndrome
  • 5p- syndrome
  • Cat cry syndrome
  • Chromosome 5p deletion syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.