Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 9932964.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
A patient with juvenile Huntington's disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected with the use of modified PCR and Southern transfer techniques, which showed a CAG trinucleotide repeat expansion of approximately 250 repeats-the largest CAG expansion reported within the huntingtin gene. This case emphasizes the need for communication between the diagnostic laboratory and the clinician to define the molecular genetics of unusual cases.
Medical subject headings
- Huntington Disease
- Trinucleotide Repeats