A CASE OF CONFINED PLACENTAL MOSAICISM WITH TRISOMY 15 ASSOCIATED WITH TURNER SYNDROME
This case highlights a rare instance of Turner syndrome with mosaic trisomy 15 found during chorionic villous sampling. Genetic counseling and further testing like amniocentesis are crucial for managing this condition due to variable outcomes.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Developmental Biology
Background:
- Turner syndrome is a genetic condition affecting females.
- Mosaic trisomy 15 is a rare chromosomal abnormality.
- Confined placental mosaicism (CPM) can complicate prenatal diagnoses.
Purpose of the Study:
- To report a rare case of Turner syndrome with mosaic trisomy 15 identified via chorionic villous sampling (CVS).
- To discuss the challenges in genetic counseling for fetal trisomy 15 mosaicism.
- To emphasize the importance of further diagnostic procedures.
Main Methods:
- Case report presentation.
- Chorionic villous sampling (CVS) for genetic analysis.
- Review of existing literature on confined placental mosaicism and trisomy 15.
Main Results:
- A rare case of Turner syndrome with mosaic trisomy 15 was identified at CVS.
- Phenotypic variability associated with trisomy 15 mosaicism presents counseling challenges.
- The study underscores the need for comprehensive genetic evaluation.
Conclusions:
- Prenatal diagnosis of mosaic trisomy 15 requires careful interpretation due to variable phenotypes.
- Offering amniocentesis or cord blood studies alongside genetic counseling is recommended.
- Accurate genetic counseling is vital for informed parental decision-making in cases of chromosomal mosaicism.
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