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

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),...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2006-01, Vol.140A (1), p.82-87
Main Authors: Kulikowski, Leslie D, Christ, Laurie A, Nogueira, Sintia I, Brunoni, Decio, Schwartz, Stuart, Melaragno, Maria I
Format: Article
Language:English
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1552-4825
DOI:10.1002/ajmg.a.31045