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Identification of a supernumerary marker derived from chromosome 17 using FISH
C Rosenberg1, C L Borovik, R S Canonaco
1Departamento de Biologia, University of São Paulo, Brazil.
American Journal of Medical Genetics
|October 23, 1995
Summary
A chromosomal abnormality, specifically a ring chromosome 17, was identified in a teenage girl with developmental delays and physical characteristics. This genetic finding offers insight into rare chromosomal disorders.
Area of Science:
- Genetics
- Clinical Medicine
- Developmental Biology
Background:
- Genetic abnormalities are a significant cause of developmental disorders.
- Chromosomal anomalies, including ring chromosomes, can lead to complex phenotypes.
Observation:
- A 15-year-old female presented with intellectual disability, obesity, short stature, and minor physical anomalies.
- Karyotype analysis revealed a 47,XX,+r karyotype, indicating an extra ring chromosome.
Findings:
- Fluorescence in situ hybridization (FISH) confirmed the ring chromosome was derived from chromosome 17.
- This specific ring chromosome 17 (r(17)) is associated with a distinct syndrome.
Implications:
- Understanding the genetic basis of rare chromosomal disorders is crucial for diagnosis and management.
- This case contributes to the literature on ring chromosome 17 syndromes and their phenotypic manifestations.
- Further research into the molecular mechanisms of r(17) may reveal therapeutic targets.