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  • Title: First case of trisomy 13 plus mosaic trisomy 1q.
    Author: Liehr T, Schmidt M, Starke H, Ziegler M, Kittner G, Heller A, Rubtsov N, Trifonov V, Claussen U.
    Journal: Fetal Diagn Ther; 2002; 17(3):133-6. PubMed ID: 11914563.
    Abstract:
    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.
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