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D Horsman

Publications and source records attributed to D Horsman.

22 records · Page 2Linked to original sources

A family with Huntington disease and reciprocal translocation 4;5.

We report the clinical and cytogenetic findings in a family in which a balanced reciprocal translocation between the long arm of chromosome 4 and the short arm of chromosome 5 is segregating together with Huntington disease in 2 generations. In situ hybridization studies revealed that the linked human DNA marker is located on the short arm of the normal and translocated chromosome 4 in the region 4p16. The association between Huntington disease and the translocation in this family may represent a chance occurrence. However, it is also possible that there is an undetected rearrangement of DNA on chromosome 4 involving the gene for Huntington disease but not affecting the site of the linked marker. Finally, the likelihood that this represents heterogeneity cannot be excluded.

Adult↗

Concurrent thymoma and lymphoma: a report of two cases.

Two patients presenting with mediastinal masses that proved to be thymomas were found to have concurrent evidence of lymphoma. One patient also developed another malignancy (of the stomach) one year later. Review of the literature shows a marked increase in the frequency of other malignancies with thymomas and suggests the possibility of decreased natural killer cell function resulting from increased suppressor T cell activity.

Adenocarcinoma↗

Conjunctival and uveal melanoma in the dysplastic nevus syndrome.

The dysplastic nevus syndrome was conceptualized in the late 1970s, and the subsequent proposal of a genetic relationship with ocular melanoma has stimulated debate in the literature which remains unresolved. We present the case of a 60-year-old man with histologically proven sporadic dysplasic nevus syndrome and a prior history of nine cutaneous melanomas, who developed a large, exophytic melanoma of the cornea and limbal conjunctiva. Cytogenetic analysis of this melanoma revealed a clonal 1;14 translocation. We believe this is the first reported case to use cytogenetic techniques in the analysis of conjunctival melanoma, either associated with dysplastic nevus syndrome or in isolation. We review the clinical literature as well as the cytogenetic and molecular genetic data related to the possible association of cutaneous melanoma, conjunctival and uveal melanoma and the dysplastic nevus syndrome.

Chromosomes, Human, Pair 1↗