A partial trisomy 15q due to 15;17 translocation detected by conventional cytogenetic and FISH techniques

We report a case having multiple abnormalities including the simultaneous p resence of the heart defect and central nerve system abnormalities, which h as been reported in a few cases, and with a partial trisomy 15q. Partial tr isomy 15q has been inherited from a balanced translocation carried by his p henotypically normal father, detected by traditional banding and fluorescen ce in situ hybridization (FISH). Application of FISH using whole chromosome specific library probes, locus specific and repetitive probes allowed us t o detect the translocation between chromosomes 15q and 17q. Simultaneous ap plication of probes revealed the position of the translocation. interesting ly, in addition to the chromosomes 15 pericentromeric signals, the use of c hromosome 15 beta-satellite III probe demonstrated an extra signal on chrom osome 14 in both metaphase, and lighted three signals interphase nuclei whi ch was inherited from his father. This patient is compared with other parti al trisomy 15q patients reported in the literature. The results are also di scussed in relation to genetic counselling for the possible relation of chr omosome abnormality and clinical findings.