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Confirmation of a balanced chromosomal translocation using molecular techniques
R D Smart1, A E Retief, J Overhauser
1Department of Human Genetics, Medical School, University of Cape Town, South Africa.
Prenatal Diagnosis
|July 1, 1989
Summary
A mother with a balanced translocation between chromosomes 5 and 9 resulted in three children with cri du chat syndrome. This genetic finding enables prenatal diagnosis for future pregnancies.
Area of Science:
- Human Genetics
- Cytogenetics
- Molecular Biology
Background:
- Cri du chat syndrome is a genetic disorder caused by a deletion on the short arm of chromosome 5.
- Recurrent cases within a family suggest a potential inherited chromosomal abnormality.