A male with a monocentric Yq isochromosome and presence of a Yp-specific DNA sequence
- 1 February 1985
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 69 (2) , 135-137
- https://doi.org/10.1007/bf00293283
Abstract
We describe clinical features and laboratory findings in a physically and mentally retarded male with under-developed testes, a seemingly monocentric isochromosome of Yq but the presence of a Yp-specific DNA sequence at a single dose of unknown genomic localisation, and the presence of H-Y antigen at normal male titer. Our data contribute to the fine mapping of the human Y chromosome by correlating phenotypic features with results from karyotypic, immunologic, and molecular hybridisation analyses.Keywords
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