Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies

Abstract

A child with multiple congenital anomalies was referred for cytogenetic evaluation. G-banded analysis showed a complex chromosome rearrangement involving 6 different chromosomes and 10 breakpoints. Fluorescence in situ hybridization (FISH) using whole chromosome painting probes and repetitive sequence probes was performed. In most cases the painting probes alone helped to clarify the G-banded results. However, in one instance, where the terminal band of the long arm of chromosome 1 was involved, the use of a telomeric probe was essential in defining the rearrangement.

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities

“…Its value lies mainly in the confirmation or clarification of previously identified rearrangements (e.g., Spikes et al 1995). In order to overcome these limitations of FISH analysis, we have recently developed a hybridization-based karyotyping approach that allows one to color-display all human chromosomes differentially .…”

A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome.

“…However, complete characterisation is not always possible; in these cases, fluorescence in situ hybridisation (FISH, in particular with whole chromosome paints and chromosome specific centromeric and subtelomeric probes) can provide additional Figure 1 (A) In situ hybridisation of a metaphase spread to whole chromosome paints specific for chromosomes 3 (green) and 13 (red) using the multiprobe FISH procedure; the arrow indicates chromosome 3 material on the derivative chromosome 17 and the arrowhead shows chromosome 3 material A new approach to the elucidation of complex chromosome rearrangements information resulting in a more accurate definition of the rearrangement. [3][4][5][6] We present a new approach to the elucidation of CCRs using a simple, flexible, and technically straightforward single slide multiprobe FISH procedure' together with computer generated colour ideograms to provide a clear visual interpretation of the structural rearrangements involved. This approach is illustrated using a CCR case presenting with Rieger syndrome.…”

Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation

“…As described in several reports, conventional cytogenetic techniques have limitations in the analysis of complex rearrangements. [10][11][12] In our case, the use of whole chromosome painting probes allowed us to identify the derivative chromosome 9 and specific locus probes near breakpoints showed the presence of a cryptic deletion of the chromosomal band 9q34.1. Wirth et al 9 estimated that a significant proportion of cytogenetically balanced translocations (>10%) have submicroscopic deletions of several megabases that account for the associated clinical phenotype.…”