Related Experiment Videos
Pure trisomy 17q from a 17;21 translocation
P Barros Nuñez1, A Rolon, L A Lizcano
1División de Genética, Instituto Mexicano de Seguridad Social (IMSS), Guadalajara, Jalisco, México.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1993
Summary
This case study highlights pure trisomy 17q syndrome in a female patient. The clinical presentation distinctly demonstrates this rare genetic disorder.
Area of Science:
- Genetics
- Clinical Medicine
- Human Physiology
Background:
- Trisomy 17q is a rare chromosomal abnormality.
- Characterized by the presence of an extra copy of the long arm of chromosome 17.
- Often associated with significant developmental abnormalities.
Observation:
- A female patient presented with a specific genetic profile.
- The patient exhibited trisomy 17q23-->qter, indicating an extra genetic segment from chromosome 17.
- This genetic anomaly led to a distinct set of clinical manifestations.
Findings:
- The patient's clinical picture is a clear illustration of the pure trisomy 17q syndrome.
- This case provides a distinct phenotype for the syndrome.
- Confirms the characteristic features associated with this specific chromosomal duplication.
Implications:
- Enhances understanding of the trisomy 17q phenotype.
- Aids in the diagnosis and genetic counseling for similar cases.
- Contributes to the knowledge base of chromosomal disorders and their clinical impact.