Diagnosing Genetic Disease with CGH Microarrays
Diagnosing Genetic Disease with CGH Microarrays
A review of Crypic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients.
Note: This is a review of the published article listed below. All information, quotes, figures, methods, and findings mentioned in this review are from that article, and are the property of its authors and/or the publication in which the article originally appeared.
Array CGH (aCGH) has enabled cytogenetic researchers to examine chromosomal aberrations with unmatched precision, shedding new light on the translation of chromosomal “balance,” particularly with respect to genetic disease. De Gregori et al. (2007) utilized aCGH technology to analyze 59 chromosomal rearrangements in 27 patients that exhibited abnormal phenotypes, all of which had been previously described as being “balanced” based on traditional cytogenetic analysis. The group used Agilent’s CGH arrays to perform global genome scanning, identifying a set of reciprocal translocations previously unreported in this study group, and redefining 11 of 27 patients as being “unbalanced.” Once global analysis was completed, the group built custom high resolution CGH arrays through Agilent’s eArray design tool to further characterize breakpoints in 7 of those patients. The results of this study underscore the need for cytogenetic analysis to be done at a higher resolution utilizing oligonucleotide aCGH to identify novel regions associated with genetic disease diagnosis.
Figure 1. Array comparative genome hybridization profiles of the chromosomes involved in deletions in 11 patients with reciprocal translocations.
Figure 2. Array comparative genome hybridization profiles of the chromosomes involved in deletions in 16 patients with complex chromosome rearrangements.
Figure 3. (A, B) Custom array CGH and FISH analysis for breakpoint characterization of patients 43 and 50.
Some of the chromosomes involved in CCRs (chromosome 4 in case 43 and chromosomes 6 and 11 in case 50) are indicated by ideograms and only the deleted regions are shown in light brown in the profile on the right. Blue lines, proximal and distal breakpoints for each deletion; brown lines are present (black) and deleted (green) probes. The FISH images show the signals of the BAC clones used to define the position of the deletions in respect to the translocation breakpoints.
Title: Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 cases.
Authors: De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderè C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O.
Journal: J Med Genet. 2007 Dec;44(12):750-62.
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