Diagnosis of a complex chromosomal rearrangement using fluorescent in situ hybridisation.

Wallerstein, Robert; Gibas, Longina; Anderson, Craig; Jackson, Laird G.

doi:10.1136/jmg.33.9.793

Cited by 6 publications

(1 citation statement)

References 6 publications

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“…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.…”

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confidence: 99%

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

Ogilvie

Raymond²,

Harrison³

et al. 1998

Journal of Medical Genetics

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A patient with a complex chromosome rearrangement and unilateral Rieger syndrome is presented. This rearrangement involves four chromosomes and six breakpoints, one of which is at 4q25, the candidate region for Rieger syndrome. We discuss a novel approach to the elucidation of this case using a multiprobe fluorescence in situ hybridisation method to show rearrangements unpredictable from G banded analysis, and the clear and unambiguous presentation of the karyotype using computer generated colour ideograms.

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Section: Introductionmentioning

confidence: 99%

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

Ogilvie

Raymond²,

Harrison³

et al. 1998

Journal of Medical Genetics

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Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: Delineation of 7q21.11 breakpoints

Vermeulen

Menten

Roy

et al. 2003

American J of Med Genetics Pt A

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Constitutional de novo complex chromosomal rearrangements (CCRs) are a rare finding in patients with mild to severe mental retardation. CCRs pose a challenge to the clinical cytogeneticist: generally CCRs are assumed to be the cause of the observed phenotypic abnormalities, but the complex nature of these chromosomal changes often hamper the accurate delineation of the chromosomal breakpoints and the identification of possible imbalances. In a first step towards a more detailed molecular cytogenetic characterization of CCRs, we studied four de novo CCRs using multicolor fluorescent in situ hybridization (M‐FISH), comparative genomic hybridization (CGH), and FISH with region specific probes. These methods allowed a more refined characterization of the breakpoints in three of the four CCRs. The occurrence of 7q breakpoints in three out of these four CCRs and in 30% of reported CCRs suggested preferential involvement of this chromosomal region in the formation of CCRs. Further analysis of these 7q breakpoints revealed a 2 Mb deletion at 7q21.11 in one patient and involvement of the same region in a cryptic insertion in a second patient. This particular region contains at least 5 candidate genes for mental retardation. The other patient had a breakpoint more proximal to this region. The present data together with these from the literature provide evidence that a region within 7q21.11 may be prone to breakage and formation of CCRs. © 2003 Wiley‐Liss, Inc.

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Balanced complex chromosome rearrangements: Reproductive aspects. A review

Madan

2012

American J of Med Genetics Pt A

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This review examines the reproductive consequences for carriers of a balanced complex chromosome rearrangement (CCR). It is based on an analysis of CCRs in 103 adults referred for reproductive problems, including male infertility. The main focus is on reproductive risks based on data from 84 CCRs. Carriers of balanced CCRs have a high risk of an abortion and/or a chromosomally unbalanced child. I have identified roughly four different types of CCRs (I-IV); most (44%) belong to Type I with a simple 3-way or 4-way exchange of segments and risk factors similar to those for reciprocal translocations. There were only three CCRs (4%) of type II, which involve an inversion. Type III CCRs (21%) involve one or more insertions with ∼35% risk of a child with a duplication or a deletion of the inserted segment. Type IV CCRs (31%) involve a "middle segment" in a derivative chromosome with segments from at least three chromosomes. In ∼35% of these CCRs, recombination occurs in this segment, which can produce imbalance but in many cases it changes a CCR into a simpler balanced rearrangement in the next generation. Balanced CCRs, which have been often considered together in one group, can now be split into four types, each with a risk of a different type of imbalance. This analysis provides a better understanding of the reproductive consequences for carriers of balanced CCRs and should be useful in prenatal diagnosis and genetic counseling.

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Diagnosis of a complex chromosomal rearrangement using fluorescent in situ hybridisation.

Cited by 6 publications

References 6 publications

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

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

Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: Delineation of 7q21.11 breakpoints

Balanced complex chromosome rearrangements: Reproductive aspects. A review

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