Related Experiment Videos
Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge
J Palacios1, C Gamallo, M García
1Department of Pathology, La Paz Hospital, Madrid, Spain.
American Journal of Medical Genetics
|July 1, 1993
Summary
DiGeorge anomaly is linked to cranial neural crest cell abnormalities. This study found significantly fewer thyrocalcitonin-immunoreactive cells (C-cells) in patients with DiGeorge anomaly, supporting a neural crest disturbance hypothesis.
Area of Science:
- Developmental Biology
- Human Genetics
- Pathology
Background:
- DiGeorge anomaly is associated with cranial neural crest abnormalities.
- The role of cranial neural crest cells in DiGeorge anomaly pathogenesis requires further investigation.
Purpose of the Study:
- To quantify thyrocalcitonin-immunoreactive cells (C-cells) in patients with DiGeorge anomaly.
- To assess the proportion of cranial neural crest-derived cells in DiGeorge anomaly.
Main Methods:
- Immunohistochemical analysis of thyroid sections from 11 DiGeorge anomaly patients and 11 controls.
- Quantification of C-cell volume density and mean number of C-cells per follicle.
Main Results:
- DiGeorge anomaly patients exhibited thymic and parathyroid aplasia/hypoplasia and cardiovascular defects.
- Significantly lower C-cell volume density (1.187% vs. 3.475%) and mean C-cells per follicle (1.42 vs. 2.367) were observed in DiGeorge anomaly patients compared to controls.
- Previously unreported defects like alobar holoprosencephaly and meningocele were noted in DiGeorge anomaly patients.
Conclusions:
- Results indicate a reduction in neural crest-derived cells in DiGeorge anomaly.
- The findings support the hypothesis that neural crest disturbances are the pathogenetic factor in DiGeorge anomaly.