Related Experiment Videos
Inv(10)(p11.2q21.2), a variant chromosome
M N Collinson1, A M Fisher, J Walker
1Wessex Regional Genetics Laboratory, Salisbury District Hospital, UK.
Human Genetics
|December 24, 1997
Summary
Pericentric inversion of chromosome 10 (inv(10)) is a common variant. This study found no increased risk of infertility or miscarriage in carriers, suggesting prenatal testing is not justified.
Area of Science:
- Human Genetics
- Cytogenetics
- Medical Genetics
Background:
- Pericentric inversions are chromosomal rearrangements.
- The specific inv(10)(p11.2q21.2) is analyzed in this study.
- Understanding the clinical significance of such variants is crucial.
Purpose of the Study:
- To investigate the clinical significance of pericentric inversion of chromosome 10 (inv(10)).
- To determine if inv(10) carriers experience increased infertility or spontaneous abortions.
- To evaluate the necessity of prenatal diagnosis and family screening for inv(10).
Main Methods:
- Analysis of 33 families with segregating inv(10).
- Review of literature data for 32 additional families with inv(10).
- Assessment of ascertainment reasons and phenotypic data in carrier families.
Main Results:
- No recombinant chromosome 10 arising from inv(10) was recorded.
- No excess of infertility or spontaneous abortion was observed in carriers.
- The inv(10)(p11.2q21.2) appears to be a benign variant.
Conclusions:
- inv(10)(p11.2q21.2) can be considered a variant similar to inv(2)(p11q13).
- Prenatal chromosome analysis for inv(10) carriers is not clinically justified.
- Family investigation of carrier status is not recommended due to potential parental anxiety.