Deletion of band 13q21 is compatible with normal phenotype


A deletion of band 13q21, of maternal origin, was found in a male whose wife had had two miscarriages. The proband and his mother were both phenotypically normal. Repeated studies by high resolution banding techniques failed to demonstrate a translocation of the deleted band in the two subjects. The absence of pathological consequences of the deletion is explained by the fact that this band is one of the latest replicating in the human karyotype, which may indicate, by analogy with heterochromatin, that it carries no transcriptionally active genetic material.

DOI: 10.1007/BF00389468


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@article{Couturier1985DeletionOB, title={Deletion of band 13q21 is compatible with normal phenotype}, author={J. Couturier and N. Morichon-Delvallez and B. Dutrillaux}, journal={Human Genetics}, year={1985}, volume={70}, pages={87-91} }