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Partial distal 12q trisomy
Annales De Genetique
|January 1, 1980
Summary
Two sisters with partial trisomy 12 (12q24-12qter) due to a maternal translocation experienced profound intellectual disability. This genetic condition resulted in similar craniofacial features but no major physical malformations.
Area of Science:
- Genetics
- Human Genetics
- Medical Genetics
Background:
- Describes two sisters with profound intellectual disability.
- Investigates a partial trisomy of chromosome 12 (12q24-12qter).
Observation:
- The chromosomal anomaly resulted from a maternal balanced translocation t(12q-; 17q+).
- Both patients exhibited similar craniofacial dysmorphism.
Findings:
- Partial trisomy 12q24-12qter is associated with profound intellectual disability.
- The condition presented with distinct facial features without significant internal or external malformations.
Implications:
- Highlights the phenotypic consequences of specific chromosomal imbalances.
- Underscores the importance of parental chromosomal analysis in cases of unexplained intellectual disability and dysmorphism.
- Provides insights into genotype-phenotype correlations in chromosomal abnormalities.