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- W2116745095 abstract "We report on a boy with mild dysmorphic features and developmental delay, in whom karyotyping showed an additional minute ring chromosome in 60% of metaphases. Fluorescence in situ hybridization (FISH) with a centromere specific probe demonstrated that the ring chromosome contained the centromeric region of chromosome 20. The ring was highlighted completely using a chromosome 20 painting probe. A cosmid probe for 20p 12-13 gave a positive signal and hybridization with an all-telomere probe showed on signal, suggesting a breakpoint in the 20p telomere. The results suggested that only a small part of 20q was involved in this ring. The ring was also detected in 18% of nuclei of a buccal smear. The phenotypic similarities of symptoms in the proband to patients with a (partial) trisomy 20p and the dissimilarities to symptoms in patients with (partial) trisomy 20q were in agreement with the FISH results." @default.
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- W2116745095 date "2008-04-23" @default.
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- W2116745095 title "Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization" @default.
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- W2116745095 doi "https://doi.org/10.1111/j.1399-0004.1996.tb04325.x" @default.
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