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[Experience with postmortem chromosome analysis]
E Pagácová1, M Duríková, G Catár
1Katedra biológie a parazitológie LFUK, Bratislava.
Bratislavske Lekarske Listy
|September 1, 1990
Summary
Necropsy samples from 1986-1988 revealed 17 pathological karyotypes in 122 cytogenetically analyzed cases. Common findings included Down
Area of Science:
- Cytogenetics
- Pathology
- Medical Genetics
Context:
- Analysis of necroptic material collected between 1986-1988.
- Samples categorized into 5 distinct indication groups.
- Focus on cytogenetic abnormalities in post-mortem specimens.
Purpose:
- To identify and characterize pathological karyotypes in necroptic samples.
- To determine the frequency of specific chromosomal abnormalities.
- To provide cytogenetic data from a historical necropsy cohort.
Summary:
- A total of 202 necroptic samples were cultured, with 122 undergoing cytogenetic analysis.
- Seventeen pathological karyotypes were diagnosed.
- Diagnoses included Down's syndrome (7 cases), Klinefelter's syndrome (2 cases), D/D translocation (2 cases), Turner's syndrome (1 case), gonosomal mosaicism (1 case), and Patau's syndrome (1 case).
Impact:
- Highlights the utility of cytogenetic analysis in necropsy for diagnosing genetic disorders.
- Contributes to the understanding of the prevalence of specific chromosomal abnormalities in the studied population.
- Provides a baseline for future comparative studies on genetic pathology.