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Title: Variegated-like mosaicism and ring syndrome in A r(4) boy. Appraisal of 38 patients with a fairly complete ring 4
Author: Dominguez, M.G.
Barros-Nunez, P.
Gonzalez-Ramos, I.A.
Rivera, H.
Issue Date: 2010
Abstract: A 13-month-old boy with normal development and growth failure of prenatal onset but no other physical stigmata had a 46,XY,r(4)pl6.3q35).ish (4psubtel-,WHS1+,4qsubtel+,pantel-) de novo karyotype. The analysis of 50-106 metaphases from each of four lymphocyte cultures (three of 72 h including one without colchicine and one of 96 h) revealed a dynamic mosaicism in 22-36% of cells. We did not observe a normal cell line. Hypoploidies (excluding ring losses) were observed in 2-7% of metaphases from colchicine-arrested cultures whereas tetraploidies were observed in 2-12% of metaphases from all four lymphocyte cultures. Further FISH studies were carried out on interphase nuclei from uncultured buccal cells and lymphocytes using two alphoid (CEP 1 and 9), a dual CEP X/SRY, and (in the former only) a subtel 4p probes. We scored 70-131 nuclei per assay and found apparent heteroploidies in ?1-47% of cells for CEP 1, CEP 9, subtel 4p, and SRY but not for CEP X. The patient's phenotype was typical of the ring syndrome and comparable to 9/37 previous r(4) cases. Moreover, all 38 patients were alive at the time of reporting and none has developed cancer. The 2-7% rate of hypodiploid cells in colchicine-arrested cultures and the ?1-47% rate of apparent heteroploidies in nuclei of uncultured cells evoke the in vitro and in vivo findings in patients with mosaic variegated aneuploidy (MVA). We conclude that our observation highlights the clinical and cytogenetical overlapping between the ring syndrome and the MVA syndrome; the crucial difference is the high risk of cancer related to BUB 1B mutations in the latter.
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