Related Experiment Videos
A jumping Robertsonian translocation: a molecular and cytogenetic study
S J Gross1, A T Tharapel, O P Phillips
1Department of Obstetrics and Gynecology, University of Tennessee, Memphis 38163, USA.
Human Genetics
|September 1, 1996
Summary
This study details a patient with complex chromosomal mosaicism involving chromosome 21, leading to Down syndrome in her children. The findings clarify the origin of these rearrangements and propose a novel mechanism for jumping translocations.
Area of Science:
- Genetics
- Human Genetics
- Cytogenetics
Background:
- Robertsonian translocations are common chromosomal rearrangements.
- Mosaicism for chromosomal abnormalities can lead to complex genetic conditions.
- Jumping translocations are rare events involving the apparent "jumping" of chromosomal segments.