Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?
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.
Fewtrell
M S
MS
John Radcliffe Hospital, Oxford, UK.
Tam
P K
PK
Thomson
A H
AH
Fitchett
M
M
Currie
J
J
Huson
S M
SM
Mulligan
L M
LM
D002508:Cephalometry; D002673:Child, Hospitalized; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10 / Q000648:ultrastructure*; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D009377:Multiple Endocrine Neoplasia / Q000235:genetics; D009432:Neural Crest / Q000473:pathology*; D000090063:Proto-Oncogene Mas; D011519:Proto-Oncogenes; D011596:Psychomotor Disorders / Q000209:etiology