Case Reports
doi: 10.1007/BF00293283.
A male with a monocentric Yq isochromosome and presence of a Yp-specific DNA sequence
- PMID: 3972415
- DOI: 10.1007/BF00293283
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Case Reports
A male with a monocentric Yq isochromosome and presence of a Yp-specific DNA sequence
Hum Genet.
1985.
Abstract
We describe clinical features and laboratory findings in a physically and mentally retarded male with underdeveloped 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.
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