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48,4X-49,5X mosaic: asynchronies among the late-replicating X chromosomes


48,4X-49,5X mosaic: asynchronies among the late-replicating X chromosomes



Cytogenetics 7(4): 249-259



ISSN/ISBN: 0011-4537

PMID: 5722744

A 13-year-old girl selected for chromosome investigations because of mental deficiency and multiple malformations was a 48,4X/49,5X mosaic. Multiple sex chromatin bodies, up to 4, were found in oral mucosa smears and in cultured fibroblasts. Two cells with drumsticks were found in scoring 1000 granulocytes. Auto-radiography revealed cells with 3 and with 4 late-replicating X-chromo-somes. 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 4 and 5 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.

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Accession: 029580906

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Related references

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