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Three Unusual but Cytogenetically Similar Cases With up to Five Different Cell Lines Involving Structural and Numerical Abnormalities of Chromosome 18

Isabel M. Carreira, Alexandra Mascarenhas, Eunice Matoso, Ana B. Couceiro, Lina Ramos, Andreas Dufke, Marie Mazauric, Rüdiger Stressig, Nadezda Kosyakova, Joana B. Melo and Thomas Liehr

Laboratório de Citogenética e Centro de Neurociências e Biologia Celular, Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal (IMC,AM,EM,JBM); Maternidade Bissaya Barreto (ABC) and Hospital Pediátrico (LR), Centro Hospitalar de Coimbra, Coimbra, Portugal; Institut für Humangenetik, Tübingen, Germany (AD); Praenatal-Medizin und Genetik, Düsseldorf, Germany (MM,RS); and Institut für Humangenetik und Anthropologie, Jena, Germany (NK,TL)

Correspondence to: Isabel Marques Carreira, Laboratório de Citogenética, Instituto de Biologia, Médica Faculdade de Medicina da Universidade de Coimbra, 3000-354 Coimbra, Portugal. E-mail: i_marques{at}hotmail.com

We report two prenatal and two postnatal diagnosed cases (the latter monozygotic twins) with ring chromosomes after GTG banding. All four, de novo r(18), cases turned out to be more complex after application of high-resolution molecular cytogenetics techniques such as use of fluorescence in situ hybridization, centromeric probes, multicolor banding, and locus-specific probes for chromosome 18. All four cases are mosaics involving chromosome 18 in up to five different cell lines, including 46,r(18); 46,dr(18); 47,r(18)x2; 46,mar(18); and 45,-18. Mosaicism sharing both numerical and structural anomalies is rare, but rings often appear as mosaics due to their mitotic instability. Overall, patients with ring chromosome 18 usually share clinical features of 18q- syndrome and, less frequently, those of 18p- syndrome. High-resolution molecular cytogenetics techniques were useful in the characterization of cases with dynamic mosaicism and in establishing the relationship between loss or gain of chromosomal material and the phenotype. (J Histochem Cytochem 55:1123–1128, 2007)

Key Words: mosaicism • ring chromosome • mitotic instability • fluorescence in situ hybridization • multicolor banding

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