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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation

Fig. 2

Chromosome analysis and fluorescence in situ hybridization (FISH) for Patient 1 and 2. A G-band chromosome analysis for Patient 1 showed one normal copy of chromosome 4, a derivative chromosome 4, and two normal copies of chromosome 10. Standard ideograms are shown next to the normal chromosomes, as well as a hypothetical ideogram for the derivative chromosome 4. The red and blue bars highlight the regions that were found by CMA to be lost/gained. B Metaphase FISH for Patient 1, focusing on the derivative chromosome 4. This chromosome showed a 4p-specific signal but was missing a 4q-specific signal (left). In a separate hybridization, this chromosome was found to hybridize with a 10p-specific FISH probe (right). C Chromosome analysis for Patient 2 showed two normal copies of chromosome 4, one normal copy of chromosome 10, and a derivative chromosome 10. Standard ideograms are shown next to the normal chromosomes, as well as a hypothetical ideogram for the derivative chromosome 10. D Metaphase FISH for Patient 2, focusing on the derivative chromosome 10. This chromosome showed a 10q-specific signal but was missing a 10p-specific signal (left). In a separate hybridization, this chromosome was also found to hybridize with a 4q-specific FISH probe (right). E Chromosome 4 and 10 karyotype of the siblings’ mother

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