Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?
case_report · Level V
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- Record sourced from PubMed, PMID 7915329.
- Also identified by PMC identifier 1049807.
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Abstract
We report a patient with total colonic aganglionosis in association with a deletion of part of the long arm of chromosome 10: (del(10)(q11.2q21.2)). This deletion includes the ret proto-oncogene, which has recently been implicated in multiple endocrine neoplasia type 2A (MEN 2A). The possible links between Hirschsprung's disease and the neurocristopathies and the aetiological role of abnormalities of neural crest development in these conditions are discussed.
Medical subject headings
- Chromosome Aberrations
- Chromosome Deletion
- Chromosomes, Human, Pair 10
- Hirschsprung Disease
- Neural Crest