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Partial trisomy of chromosome 15
American Journal of Mental Deficiency
|May 1, 1977
Summary
Cytogenetic analysis identified an extra, deleted chromosome 15 (trisomy 15q-) in a moderately mentally retarded female. This highlights the value of chromosomal studies for intellectual disability without distinct physical features.
Area of Science:
- Genetics
- Cytogenetics
- Developmental Biology
Background:
- Intellectual disability (ID) diagnosis often relies on clinical presentation.
- Chromosomal abnormalities are a significant cause of ID, but can be subtle.
- Genetic testing is crucial for identifying underlying causes of ID.