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Post mortem findings in a patient with 46,XX,fra(2)(q13)
A Smith1, J Sullivan, W A Evans
1Oliver Latham Laboratory, Department of Health, N.S.W., Australia.
Journal of Mental Deficiency Research
|February 1, 1989
Summary
A fragile site on chromosome 2q13 was identified in a young woman with severe intellectual disability and seizures. Its expression was higher in blood cells than in skin cells, though no direct cause of death was found.
Area of Science:
- Genetics
- Neurology
- Pathology
Background:
- This study investigates a rare case of severe intellectual disability, grand mal seizures, myoclonic jerking, and ataxia in an 18-year-old female.
- The research focuses on cytogenetic analysis to identify potential underlying genetic abnormalities.
Observation:
- Chromosome studies were performed on the patient both before and after death.
- A fragile site was identified on chromosome 2q13.
Findings:
- The fragile site on chromosome 2q13 showed greater expression in peripheral blood samples compared to fibroblast cultures on two separate occasions.
- Post-mortem examination did not reveal any pathological abnormalities directly attributable to the fragile site on chromosome 2q13.
Implications:
- This finding highlights the potential role of fragile sites in neurodevelopmental disorders and seizure activity.
- Further research is needed to understand the functional significance of the chromosome 2q13 fragile site and its association with neurological phenotypes.
- The study underscores the importance of comprehensive cytogenetic analysis in cases with unexplained neurological deficits.