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Balanced reciprocal translocation mosaicism: how frequent?
K E Opheim1, A Brittingham, D Chapman
1Department of Pathology, University of Washington, Seattle 98195, USA.
American Journal of Medical Genetics
|July 17, 1995
Summary
This study investigates balanced reciprocal translocation (BRT) mosaicism, finding its frequency in referred populations to be approximately 5.7 x 10(-5) postnatally and 4.1 x 10(-5) prenatally.
Area of Science:
- Human Genetics
- Clinical Cytogenetics
- Genomic Instability
Background:
- Balanced reciprocal translocations (BRTs) are chromosomal rearrangements.
- Mosaicism, where an individual has cell populations with different chromosomal complements, can occur with BRTs.
- Understanding the frequency and implications of BRT mosaicism is crucial for genetic counseling and reproductive health.
Observation:
- Two cases of balanced reciprocal translocation mosaicism were identified and described.
- BRT mosaicism frequency was assessed in populations referred to a clinical cytogenetics laboratory.
- Parental populations were surveyed to mitigate ascertainment bias related to abnormal phenotypes.
Findings:
- The calculated frequency of BRT mosaicism was 5.7 x 10(-5) in the postnatal population (95% CI: 3.2-8.2 x 10(-5)).
- The frequency in the prenatal population was calculated as 4.1 x 10(-5) (95% CI: 2.0-6.2 x 10(-5)).
- These estimates are considered first approximations due to observed variations in reported frequencies across studies.
Implications:
- Provides updated frequency estimates for BRT mosaicism in clinical settings.
- Highlights the importance of considering mosaicism in chromosomal abnormality assessments.
- Contributes to a better understanding of the prevalence of rare genetic variations.