Article
Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.
Journal of medical genetics - 1 Apr 1994
Barber J C, Ellis K H, Bowles L V, Delhanty J D, Ede R F, Male B M, Eccles D M
Abstract excerpt
We present the clinical and laboratory findings in an institutionalised adult patient originally referred for autism. A high risk of colorectal cancer was predicted when an interstitial deletion of the long arm of chromosome 5, del(5)(q15q22.3), was detected in her lymphocytes and deletion of the...
Topics
- Adenocarcinoma
- Adenomatous Polyposis Coli
- Adult
- Autistic Disorder
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Fatal Outcome
- Female
- Genes, APC
- Genes, MCC
- Humans
- Intellectual Disability