A new case of trisomy for the short arm of No. 9 chromosome.

Cytogenetic studies from case 1 included cultures of peripheral blood and skin fibroblasts. Karyotypes from both cultures showed trisomy D(47,XX, + D). Giemsa banding of cells from the skin fibroblast culture, using a modification of the method of Seabright (1971), showed 47,XX,+ 13 (Fig. 3). Chromosome analysis of peripheral leucocytes of the parents were normal. In case 2 the karyotype from a peripheral blood culture demonstrated 46,XX, D, + t(DqDq). Giemsa banding showed that the translocation involved chromosomes Nos. 13 and 14, and the missing D chromosome was No. 14 (Fig. 4). The karyotype from the affected child could then be specified as 46,XX, 14, + t(l3q14q), and was therefore consistent with trisomy 13 syndrome. The parents were not available for chromosome study.