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Partial trisomy 1(q42-->qter): a new case with a mild phenotype
D Concolino1, R Cinti, L Ferraro
1Department of Paediatrics, Faculty of Medicine, University of Reggio Calabria, Ospedale A Pugliese, Catanzaro, Italy.
Journal of Medical Genetics
|February 25, 1998
Summary
This study details a female patient with a rare chromosomal abnormality, der(8)t(1;8), experiencing mild developmental delays and subtle dysmorphic features. The condition is likely due to trisomy 1q42, with a deletion on chromosome 8p.
Area of Science:
- Human Genetics
- Cytogenetics
- Clinical Genetics
Background:
- Karyotyping is crucial for identifying chromosomal abnormalities.
- Translocations and resulting aneuploidies can lead to various developmental phenotypes.
Observation:
- A female patient presented with a karyotype of 46,XX,der(8)t(1;8)(q42.1;p23.3).
- The patient exhibited a mild phenotype including subtle dysmorphic features and mild developmental retardation.
Findings:
- The phenotype is likely associated with trisomy of the 1q42-->qter region.
- A deletion was observed on the distal segment of the short arm of chromosome 8.
Implications:
- This case expands the understanding of phenotypes associated with der(8)t(1;8) chromosomal rearrangements.
- Correlating specific chromosomal segments with clinical features aids in genetic counseling and diagnosis.