Case Report of Partial Trisomy 13q22 and Neurological Disorders
Author Information
Author(s): Renee Ribacoba, Manuel Menendez-Gonzalez, Ines Hernando, Javier Salas, Maria Luisa Giros
Primary Institution: Hospital Alvarez Buylla, Mieres, Spain
Hypothesis
The study investigates the clinical features and implications of partial trisomy 13q22 in a patient with neurological disorders.
Conclusion
The case illustrates the importance of karyotype analysis in patients with seizures and specific clinical features.
Supporting Evidence
- The patient exhibited significant neurological disorders including leukoencephalopathy and late onset generalized epilepsy.
- Cytogenetic analysis revealed a partial trisomic component from chromosome 13.
- The patient had a history of early menopause and learning disabilities.
Takeaway
This study is about a woman with a rare chromosome issue that caused her to have seizures and other health problems, showing how important it is to check chromosomes in similar cases.
Methodology
Cytogenetic analysis, MRI, EEG, and biochemical tests were performed to assess the patient's condition.
Limitations
The autopsy was not performed, limiting further understanding of the case.
Participant Demographics
A 33-year-old female with no family history of epilepsy.
Digital Object Identifier (DOI)
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