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FISH for Pre-implantation Genetic Diagnosis
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Trisomy 5p: a second case occurring in a previously described kindred
Journal of Medical Genetics
|April 1, 1984
Summary
A second child with trisomy 5p, a genetic disorder, was identified in a family. This case, like the first, showed similar physical and brain abnormalities, but with paternal inheritance.
Area of Science:
- Genetics
- Human genetics
- Medical genetics
Background:
- Trisomy 5p is a rare chromosomal abnormality.
- Previous reports on this kindred exist.
Observation:
- A second child with trisomy 5p was born into the same family.
- Cytogenetic analysis revealed paternal origin of the trisomy.
- Advanced banding techniques refined breakpoint identification.
Findings:
- Both affected children shared three non-specific phenotypic malformations.
- A potential specific brain abnormality was observed in both cases.
- Clinical and necropsy findings were documented for the second child.
Implications:
- This case highlights the recurrence of trisomy 5p within a family.
- Paternal origin suggests specific mechanisms may be involved.
- Further research into trisomy 5p genotype-phenotype correlations is warranted.
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