Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 -> pter and partial trisomy 1q41 -> qter suggests neo-telomere formation in stabilizing the deleted chromosome

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Kulikowski, L. D.
Christ, L. A.
Belangero, Sintia Iole [UNIFESP]
Brunoni, D.
Schwartz, S.
Melaragno, M. I.
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We report on a clinical and molecular cytogenetic study of a patient who presents a complex chromosomal rearrangement with two different cell lines. Using high-resolution GTG handing and fluorescence in situ hybridization (FISH) with several probes, including bacterial artificial chromosomes (BACs), the karyotype was defined as 46,XX,del(9)(p23)[54]/ 46,XX,der(9)t(1;9)(q41;p23)[461, indicating the presence of monosomy 9p23 in all cells and trisomy 1q41 in approximately 50% of the cells. the patient studied presents most of the manifestations of the 9p deletion and 1q duplication syndromes. the breakpoint was mapped at 9p23 with a loss of approximately 13.9-Mb of DNA. the duplicated segment consists of approximately 35 Mb from 1q41-qter region. We also suggest that a mechanism for telomere capture and interstitial telomeric sequences (ITs) is involved in a neotelomere formation in one of the cell lines. This study highlights the importance of combining high-resolution chromosome and FISH with BACs in order to make genotype -phenotype correlations and to understand the mechanisms involved chromosomal aberrations. (c) 2005 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 140A, n. 1, p. 82-87, 2006.