ArticleHuman genetics2006
Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.
Article in Human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review.Journal of assisted reproduction and genetics · 2025Review
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
- Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.Molecular cytogenetics · 2015Article
- A novel immunodeficiency syndrome associated with partial trisomy 19p13.Journal of medical genetics · 2014Article
- Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics.Heredity · 2012Review
- Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays.Nature protocols · 2009Article
- Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.PloS one · 2007Article
- A high-resolution map of synteny disruptions in gibbon and human genomes.PLoS genetics · 2006Article
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12 authors.
Funding
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Abstract
Recently there has been an increased interest in large-scale genomic variation and clinically in the consequences of haploinsufficiency of genomic segments or disruption of normal gene function by chromosome rearrangements. Here, we present an extraordinary case in which both mother and daughter presented with unexpected chromosomal rearrangement complexity, which we characterized with array-CGH, array painting and multicolor large insert clone hybridizations. We found the same 12 breakpoints involving four chromosomes in both mother and daughter. In addition, the daughter inherited a microdeletion from her father. We mapped all breakpoints to the resolution level of breakpoint spanning clones. Genes were found within 7 of the 12 breakpoint regions, some of which were disrupted by the chromosome rearrangement. One of the rearrangements disrupted a locus, which has been discussed as a quantitative trait locus for fetal hemoglobin expression in adults. Interestingly, both mother and daughter show persistent fetal hemoglobin levels. We detail the most complicated familial complex chromosomal rearrangement reported to date and thus an extreme example of inheritance of chromosomal rearrangements without error in meiotic segregation.
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