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Partial trisomy 13 as a result of de novo (6p;13q) translocation
Human Genetics
|April 27, 1979
Insights
This study identified a rare tandem translocation between chromosome 6 and an extra chromosome 13 in a newborn with Patau syndrome. This genetic abnormality, t(6;13)(p24;q12), occurred with normal parents.
Area of Science:
- Genetics
- Human Genetics
- Molecular Biology
Background:
- Patau syndrome, also known as trisomy 13, is a severe genetic disorder.
- Chromosomal translocations can lead to genetic disorders by altering gene dosage or structure.
Observation:
- A newborn male presented with clinical features consistent with Patau syndrome.
- Karyotype analysis revealed a 46,XY,t(6;13)(p24;q12) karyotype, indicating a tandem translocation.
Findings:
- The patient had excess genetic material from chromosome 13.
- This excess material was tandemly translocated onto the short arm of chromosome 6.
- Both parents had normal karyotypes, suggesting a de novo translocation.
Implications:
- This specific translocation t(6;13)(p24;q12) is a novel mechanism causing Patau syndrome.
- Understanding such translocations is crucial for genetic counseling and prenatal diagnosis.
- Further research into the breakpoints and gene expression affected by this translocation is warranted.
Abstract:
A newborn infant with the clinical features of the Patau syndrome was found to have excess chromosome 13 material present as a tandem translocation involving the short arm of chromosome 6 and the long arm of an extra chromosome 13: 46,XY,t(6;13)(p24;q12). The major part of the long arm of the extra chromosome 13 was attached linearly (tandem translocation) to the short arm of chromosome 6. Both parents were phenotypically and karyotypically normal.