Objectives: In a case with severe sonographic abnormalities followed by missed abortion in week 14 + 5 days, cytogenetic analysis was performed on placental tissue. A mosaic karyotype 47,XY,+13,add(1)(q44)[3]/47,XY, +13[9]/46,XY[36] was detected. The purpose of the present study was to characterize the additional material on chromosome 1q. Methods: According to GTG banding, the additional material on chromosome 1 was most probably chromosome 1 material. Thus, multicolor banding analysis using a chromosome 1 specific probe set was done to precisely describe the rearranged chromosome 1. Results: Molecular cytogenetic approaches revealed that the derivative chromosome 1 was der(1)(1p36.3→1q44::1q12→1q44). Conclusions: This is the first description of a case with a trisomy 13 plus a partial trisomy 1q presenting with clinical signs of both aberrations. Moreover, the multicolor banding technique is suited to resolve complex karyotypes in the prenatal diagnosis, i.e., chromosome preparations of fibroblasts.

Keywords:
Trisomy 13 plus mosaic trisomy 1q, Sonographic abnormalities, Chromosomal rearrangement
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© 2002 S. Karger AG, Basel
2002
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