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Figure 1 | Molecular Cytogenetics

Figure 1

From: Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

Figure 1

Cytogenetic and molecular cytogenetic results of case A (= case 13 in Tab.1). The marker is highlighted by a blue arrowhead in a, d, e and f. a) GTG-banding revealed a karyotype 47,XY,+mar in all studied cells. b) Chromosome flow sorting and reverse FISH revealed that the sSMC [= der(18)] consists of chromosome 18p and 8pter material. c) The result of reverse FISH was confirmed by a subtelomeric probe for 8pter (green) and the centromeric probe D18Z1 (= cep 18 – red). d) A subtelomeric probe for 18pter (green) together with D18Z1 (cep 18 – red) indicated that the entire short arm of chromosome 18 was present on the marker chromosome. e) Application of probe D18Z1 with the centromere-near probes for 18p11.21 and 18q11.2 with the showed that obviously no 18q-material was present on the sSMC. f) Multicolor banding (MCB) confirmed that the whole short arm was present three times in this case. There was no hint on additional material of other chromosomal material on the sSMC by this approach.

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