GTR Home > Conditions/Phenotypes > 5p partial monosomy syndrome

Summary

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents. [from OMIM]

Available tests

23 tests are in the database for this condition.

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Clinical features

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Practice guidelines

  • ESHG/ASHG, 2015
    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

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