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
✍ Scribed by Leslie D. Kulikowski; Laurie A. Christ; Sintia I. Nogueira; Decio Brunoni; Stuart Schwartz; Maria I. Melaragno
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 198 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
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✦ Synopsis
Abstract
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 banding 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)[46], 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 neo‐telomere 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. © 2005 Wiley‐Liss, Inc.