Karyotypes and Case Studies of Ten Individuals With Suspected Sex Chromosome Anomalies

40 leaves, Advisor: Michael E. MyszewskiThe problem. This study will involve making a karyotype analysis and a case study of the residents of Woodward State Hospital and School who had been previously reported as having an abnormal X-chromatin constitution. Procedure. Buccal smears were taken from each individual and stained with carbolfuchsin. Cells were observed for their X-chromatin content. Blood samples of each resident were drawn, cultured and harvested according to standard procedures. Chromosomes were counted in 30-50 cells and karyotypes prepared with emphasis on identifying the X-chromosome complement of each cell line. Case studies of the family history and physical features of each individual were done. Findings. Six female residents suspected of having a 45,XO chromosome complement or possible 45,XO/46,XX mosaic condition were found to have a normal 46,XX chromosome complement. Two male residents suspected of having Turner's syndrome in the male were found to have a 46,XY chromosome complement. One male resident with a Klinefelter's phenotype had a 46,XY chromosome complement. One male had a 49,XXXXY chromosome complement. Conclusions. The six females in the study were found not to have Turner's syndrome or mosaicism for the syndrome. Two males suspected of being male Turner's phenotypes were found to have Down's syndrome but no indication of Turner's syndrome. One male was found to have chromatin negative Klinefelter's syndrome. One male had a 49,XXXXY chromosome complement and showed all the phenotypic features of that condition