A 13-year-old girl selected for chromosome investigations because of mental deficiency and multiple malformations was found to be a 48, XXXX/ 49, XXXXX mosaic. Multiple sex chromatin bodies, up to four, were found in oral mucosa smears and in cultured fibroblasts. Two cells with drumsticks were found in scoring 1,000 granulocytes. Autoradiography revealed cells with three and with four late-replicating X chromosomes. Analysis of the patterns of replication along the individual late-replicating X chromosomes in each cell revealed a certain degree of asynchrony among them. In both types of cells, with four and five X’s, the long arms of the X were the last to terminate synthesis. In the occasional cell there was marked internal asynchrony in this respect.
SummaryIn a girl affected by mental deficiency and slight malformations, a 46,XX, 18r chromosome set was found. Metaphases with irregularly sized or absent rings amounted to 14% in peripheral blood cultures. Tritiated thymidine incorporation pattern in the ring chromosome was similar to that of the normal 18 chromosome.
SUMMARYCytogenetic studies were performed in six clinically typical cases of Turner's syndrome. In five of them an XO chromosome complement was observed. In the sixth case the chromosome number appeared normal, but karyotype analysis revealed the presence of three large metacentric chromosomes similar to No. 3. A diagnosis of presumptive isochromosome for the long arm of X was suggested by the autoradiographic evidence of late replication and by the presence of larger than normal Barr bodies and drumsticks.
SUMMARYDuring routine karyotypic analysis of patients with mental deficiency and congenital malformations, a partial deletion of the short arm of a B (4-5) chromosome was observed in two children (a male, 23 months old, and a female, 4 months old).Clinical pictures and chromosomal abnormalities were found to be consistent with the findings in the « cri du chat » syndrome.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.