A report of a case of r(13) syndrome and a review of the literature.

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This is a report on a patient with the karyotype 46, XX, -13, +r(13), and a review of the literature on the ring 13 (r13) chromosome. We have used two computerized data bases for a search of information on the r (13) chromosome syndrome. We have analyzed the data on 39 patients (subjects) all of whose karyotypes included r (13). We have especially searched for helpful data for physical features and counseling of families in whom this subject may appear: multiple birth defects, natural history, management problems, and correlation with cytogenetic results. The 39 cases reviewed here, which include r (13) in the karyotypes, correlate best with Niebuhr's Category I of 13q-subjects, and in a few instances, with Category II. Occasional cases have features of Trisomy 13.
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