Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?
- 1 April 1994
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (4), 325-327
- https://doi.org/10.1136/jmg.31.4.325
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.Keywords
This publication has 22 references indexed in Scilit:
- Physical and Genetic Maps for Chromosome 10Genomics, 1993
- Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2Genes, Chromosomes and Cancer, 1993
- Interstitial deletion of 10q: Clinical features and literature reviewAmerican Journal of Medical Genetics, 1992
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 1 of 27)Cytogenetic and Genome Research, 1991
- Formation and malformation of the enteric nervous system in mice: An organ culture studyJournal of Pediatric Surgery, 1990
- Familial Occurrence of Neuroblastoma, Von Recklinghausen's Neurofibromatosis, Hirschsprung's Agangliosis and Jaw‐winking SyndromeActa Paediatrica, 1989
- Deletion of genes on chromosome 1 in endocrine neoplasiaNature, 1987
- Inability of neural crest cells to colonize the presumptive aganglionic bowel of ls/ls mutant mice: Requirement for a permissive microenvironmentJournal of Comparative Neurology, 1987
- Interstitial deletion of the long arm of chromosome 10: Del(10)(q11.2q21)American Journal of Medical Genetics, 1985
- Hirschsprungʼs Disease in a Family with Multiple Endocrine Neoplasia Type 2Journal of Pediatric Gastroenterology and Nutrition, 1982