Letter: Myasthenia gravis and XYY syndrome.
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Biomedical subjects
Publications and source records attributed to J Cervenka.
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Three patients with Fanconi's anemia were analyzed for chromosome breaks. T and B cells were separated and grown in tissue culture with PHA and pokeweed antigen to ascertain the rates of breakage in these lymphocytic subpopulations. It has been found that there is no statistically significant difference in breakage rates in T and B lymphocytes. It is postulated that both T and B cells could be involved in the development of leukemia in Fanconi's anemia patients, assuming that chromosome breaks constitute a factor predisposing to the development of malignancy.
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The authores investigated 273 women who bore one or more children with birth defects. These defects were classified genetically as polygenic inherited. The authors describe the bases and results of preconceptional care as a method to reduce the risk of polygenic inherited birth defects.
Attention is directed towards the use of new techniques in cytogenetics. C-, G-, Q-, and R-banding methods are briefly discussed and illustrated. Methods of sister chromatid differential staining and silver staining for demonstration of nucleolus organizing regions are reviewed and their application in medical cytogenetics is pointed out. Frequency of chromosomal aberration and the importance of the orofacial area in diagnosis of chromosomal syndromes are the bases for the argument for the usefulness of cytogenetics in the field of stomatology-dentistry.
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A patient with Turner XO/XX mosaicism is presented who also exhibits alopecia totalis, nail dysplasia and amelogenesis imperfecta. This combination has not been previously reported. What relationship the clinical manifestations have to the chromosome status is also unknown.