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07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
A case of 22-trisomy mosaic
Acta Paediatrica Academiae Scientiarum Hungaricae
|January 1, 1977
Summary
A genetic study identified an extra small acrocentric chromosome, specifically chromosome 22, in half of the blood cells of a girl with developmental delays and congenital heart issues.
Area of Science:
- Genetics
- Cytogenetics
- Pediatric Medicine
Background:
- Congenital disorders often involve chromosomal abnormalities.
- Early identification of genetic factors is crucial for understanding developmental and physical anomalies.
Observation:
- A patient presented with somato-mental retardation, congenital heart failure, and dysmorphic features.
- Analysis of cultured blood cells revealed an abnormal chromosome count.
Findings:
- A supernumerary small acrocentric chromosome was detected in 50% of the analyzed cells.
- Further characterization identified the extra chromosome as chromosome 22.
Implications:
- This finding contributes to understanding chromosomal abnormalities in developmental disorders.
- The presence of an extra chromosome 22 may be linked to the patient's specific clinical presentation.
- Further research can explore the role of chromosome 22 aneuploidy in congenital conditions.
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