ArticleMolecular cytogenetics2009
Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report.
Article in Molecular cytogenetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 59 citations in OpenAlex.
- Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies.Genetics in medicine open · 2025Article
- A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes.Molecular cytogenetics · 2022Article
- Marfan Syndrome Caused by Disruption of theGenes · 2021Article
- 22q11.2 deletion detected byColombia medica (Cali, Colombia) · 2018Article
- Characterization of a complex chromosomal rearrangement involving chromosomes 1, 3, and 4 in a slightly affected male with bad obstetrics history.Journal of assisted reproduction and genetics · 2018Article
- A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences.Journal of assisted reproduction and genetics · 2017Article
- Article
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
- Exceptional complex chromosomal rearrangements in three generations.Case reports in genetics · 2015Article
- Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.Nature biotechnology · 2014Article
- The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.European journal of human genetics : EJHG · 2014Article
- Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.Molecular cytogenetics · 2014Article
- Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene.Molecular cytogenetics · 2012Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundComplex chromosomal rearrangements (CCR) are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because of the relative low resolution of this technique. High resolution genotyping is necessary in order to identify cryptic imbalances, for instance near the multiple breakpoints, to explain the abnormal phenotype in these patients. We applied several molecular techniques to elucidate the complexity of the CCRs of two adult patients with abnormal phenotypes.
resultsMulticolour fluorescence in situ hybridization (M-FISH) showed that in patient 1 the chromosomes 1, 10, 15 and 18 were involved in the rearrangement whereas for patient 2 the chromosomes 5, 9, 11 and 13 were involved. A 250 k Nsp1 SNP-array analysis uncovered a deletion in chromosome region 10p13 for patient 1, harbouring 17 genes, while patient 2 showed no pathogenic gains or losses. Additional FISH analysis with locus specific BAC-probes was performed, leading to the identification of cryptic interstitial structural rearrangements in both patients.
conclusionApplication of M-FISH and SNP-array analysis to apparently balanced CCRs is useful to delineate the complex chromosomal rearrangement in detail. However, it does not always identify cryptic imbalances as an explanation for the abnormal phenotype in patients with a CCR.
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