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Fig. 1 | Molecular Cytogenetics

Fig. 1

From: Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases

Fig. 1Fig. 1Fig. 1

Simple unbalanced translocations. The arrows indicate the abnormal chromosomes. Case1, panel A: (A1) Representative pair of Q-banded add(6)(p25) in the cytotrophoblast (left) and cryptic der(6)t(6;19) in placental mesenchymal cells (center) and in amniocytes (right) (A2) Subtelomeric FISH on cryptic derivative: the green signal marks the 6p subtelomere, with cryptic terminal deletion in the derivative (left); the red signal marks the 19q subtelomere, with cryptic 19q duplication in the derivative (right) (A3) Cryptic derivative CMA profiles: chromosome 6 with 6p25 microdeletion (left) and chromosome 19 with 19q13.43 microduplication (right). Case 2, panel B: (B1) Representative pair of Q-banded chromosomes 14: the chromosome pair with the add(14)(p11.1) (left) and the apparently normal one (right) (B2) Subtelomeric and whole-chromosome 8 painting FISH on the two cell lines: the chromosome 8 is labeled in red, the green signal marks the 8p subtelomere in the cell line with the larger duplication 8p23.3p11.1 (left) and in the one with the smaller non adjacent duplications 8p23.3p23.1 and 8p23.1p23.1 (right) (B3) chromosome 8 CMA profile from uncultured CV, showing a mosaic duplication of the entire 8p (DNA from a mixture of normal cytotrophoblast and non-mosaic abnormal mesenchyme) (left) and from amniocytes of an independent culture with only the cryptic derivative (8) that shows two discontinuous non-mosaic duplications in 8p. Case 3, panel C: (C1) Representative pairs of G-banded chromosomes 15 with the der(15)t(2q;15q) on the right (left) and chromosome2 CMA profile from CV mesenchyme with mosaic 2q14.1q37.3 duplication (right) (C2) Representative pairs of G-banded apparently normal chromosomes 15 (left) with terminal non-mosaic microdeletion 15q26.2q26.3 in CMA profile (left) (C3) Subtelomeric FISH on apparently normal cell lines: terminal microdeletion 15q26.2q26.3 with loss of the subtelomeric orange/green signal distal to light blue control probe, in cells from CV mesenchymal cells (left) and from CV direct preparation (right)

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Molecular Cytogenetics

ISSN: 1755-8166