ArticleAmerican journal of human genetics1999
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 61 citations in OpenAlex.
- Mapping of meiotic recombination in human preimplantation blastocysts.G3 (Bethesda, Md.) · 2023Article
- Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.Human molecular genetics · 2018Article
- Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.Human molecular genetics · 2016Article
- Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor.Genes, chromosomes & cancer · 2011Article
- The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.Clinical genetics · 2010Review
- Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.Molecular syndromology · 2010Article
- Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.American journal of medical genetics. Part A · 2009Article
- The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma.Molecular cancer · 2009Article
- Jacobsen syndrome.Orphanet journal of rare diseases · 2009Review
- AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.Genome research · 2007Article
- Palindrome-mediated chromosomal translocations in humans.DNA repair · 2006Review
- A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer.Prenatal diagnosis · 2005Article
- Genomic disorders on 22q11.American journal of human genetics · 2002Review
- AT-rich palindromes mediate the constitutional t(11;22) translocation.American journal of human genetics · 2001Article
- Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).American journal of human genetics · 2000Article
- Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Structural chromosomal rearrangements occur commonly in the general population. Individuals that carry a balanced translocation are at risk of having unbalanced offspring; therefore, the frequency of translocations in couples with recurrent spontaneous abortions is higher than that in the general population. The constitutional t(11;22) translocation is the most common recurrent non-Robertsonian translocation in humans and may serve as a model to determine the mechanism that causes recurrent meiotic translocations. We previously localized the t(11;22) translocation breakpoint to a region on 22q11 within a low-copy repeat, termed "LCR22." To define the breakpoint on 11q23 and to ascertain whether this region shares homology with LCR22 sequences, we performed haplotype analysis on patients with der(22) syndrome. We found that the breakpoint on 11q23 occurred between two genetic markers, D11S1340 and APOC3-tetra, both being present within a single bacterial-artificial-chromosome clone. To determine whether the breakpoint occurred within the same region among a larger set of carriers, we performed FISH mapping studies. The breakpoints were all within the same clone, suggesting that this region may harbor sequences that are prone to breakage. We narrowed the breakpoint interval, in both derivative chromosomes from two unrelated carriers, to a 190-bp, AT-rich repeat, which indicates that this repeat may mediate recombination events on chromosome 11. Interestingly, the LCR22s harbor AT-rich repeats, suggesting that this sequence motif may mediate recombination events in nonhomologous chromosomes during meiosis.
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