HIRSCHSPRUNGS-DISEASE ASSOCIATED WITH A DELETION OF CHROMOSOME-10 (Q11.2Q21.2) - A FURTHER LINK WITH THE NEUROCRISTOPATHIES

Authors
FEWTRELL MS TAM PKH THOMSON AH FITCHETT M CURRIE J HUSON SM MULLIGAN LM
Citation
Ms. Fewtrell et al., HIRSCHSPRUNGS-DISEASE ASSOCIATED WITH A DELETION OF CHROMOSOME-10 (Q11.2Q21.2) - A FURTHER LINK WITH THE NEUROCRISTOPATHIES, Journal of Medical Genetics, 31(4), 1994, pp. 325-327
Citations number
23
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
31
Issue
4
Year of publication
1994
Pages
325 - 327
Database
ISI
SICI code
0022-2593(1994)31:4<325:HAWADO>2.0.ZU;2-4
Abstract
We report a patient with total colonic aganglionosis in association wi th a deletion of part of the long arm of chromosome 10: (del(10)(q11.2 q21.2)). This deletion includes the ret proto-oncogene, which has rece ntly been implicated in multiple endocrine neoplasia type 2A (MEN 2A). The possible links between Hirschsprung's disease and the neurocristo pathies and the aetiological role of abnormalities of neural crest dev elopment in these conditions are discussed.