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Nuclear volume and total optical density in Down syndrome
Dragan Mihailovic1, Desanka Tasic-Dimov, Zaklina Mijovic
1Institute of Pathology, University of Nis, Novoprojekjodana B.B., YU, 18000 Nis, Serbia, Serbia. mihapat@junis.ni.ac.yu
Analytical and Quantitative Cytology and Histology
|November 8, 2003
Summary
Nuclear size and optical density differ in Down syndrome (trisomy 21) patients. Thyroid cells showed smaller nuclei and lower optical density, while liver cells had larger nuclei and higher optical density compared to controls.
Area of Science:
- Cell biology
- Genetics
- Histology
Background:
- Down syndrome (trisomy 21) is a genetic disorder associated with characteristic physical features and intellectual disability.
- Cellular and nuclear morphology can be affected by genetic abnormalities, potentially impacting gene expression.
Purpose of the Study:
- To quantitatively assess nuclear size and integrated optical density in parenchymal cells from various organs in individuals with Down syndrome.
- To compare these nuclear parameters between patients with Down syndrome and a control group of infants without congenital anomalies.
Main Methods:
- A case-control study involving 14 infants with Down syndrome and 10 control infants.
- Estimation of five nuclear variables: area, equivalent diameter, volume of equivalent sphere, roundness, and total optical density (TOD).
- Analysis focused on thyroid follicular cells and hepatocytes.
Main Results:
- Thyroid follicular cells in Down syndrome patients exhibited significantly lower mean nuclear volume and TOD compared to controls (P < .01).
- Hepatocyte nuclear volume and TOD were significantly higher in the control group than in patients with trisomy 21 (P < .05).
Conclusions:
- The findings suggest that the excess genetic material in Down syndrome leads to altered gene expression.
- These alterations are particularly evident in thyroid follicular cells, indicating organ-specific effects.