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Abnormal chromosome 9 in a neonate program. Report of three cases
1Department of Medical Technology, St Mary's Hospital, Kurume, Japan.
Archives of Pathology & Laboratory Medicine
|February 1, 1990
Summary
This study details three unique chromosome 9 abnormalities. Cases include homologous translocation, 9p trisomy syndrome, and a rare mosaic tetrasomy 9p without developmental issues.
Area of Science:
- Genetics
- Human Genetics
- Cytogenetics
Background:
- Chromosome 9 abnormalities can lead to diverse clinical presentations.
- Understanding these variations is crucial for genetic counseling and diagnosis.
Observation:
- Case 1: A female with homologous chromosome 9 translocation and brain anomalies.
- Case 2: A male exhibiting 9p trisomy syndrome with characteristic features.
- Case 3: A male with partial 9p tetrasomy mosaicism, notably without observable phenotypic abnormalities.
Findings:
- Detailed karyotypes were established for all three patients, revealing distinct structural and numerical chromosome 9 aberrations.
- Patient 1 presented with a complex t(9;9) translocation.
- Patient 2 displayed a partial trisomy 9p, consistent with known 9p trisomy syndrome.
Implications:
- This report expands the understanding of chromosome 9 structural variations and their phenotypic consequences.
- The unique case of mosaic tetrasomy 9p highlights the complexity of genotype-phenotype correlations.
- Further research into these chromosomal abnormalities can improve diagnostic accuracy and patient management.