ArticleAmerican journal of human genetics1999
Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.
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 27 papers.
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Who cites it
27 citing papers in PubMed, 83 citations in OpenAlex.
- Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening.Case reports in genetics · 2025Article
- Article
- The 22q11.2 Low Copy Repeats.Genes · 2022Review
- Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)-Case Report.Molecular cytogenetics · 2022Article
- Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations.Human molecular genetics · 2021Article
- Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients.Frontiers in genetics · 2020Article
- Small supernumerary marker chromosomes and their correlation with specific syndromes.Advanced biomedical research · 2015Review
- Derivative 11;22 (emanuel) syndrome: a case report and a review.Case reports in pediatrics · 2013Article
- Chromosomal translocations and palindromic AT-rich repeats.Current opinion in genetics & development · 2012Review
- Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.Genome research · 2011Article
- The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.Clinical genetics · 2010Review
- Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.American journal of medical genetics. Part A · 2009Article
- Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays.American journal of medical genetics. Part A · 2008Article
- Molecular cloning of a translocation breakpoint hotspot in 22q11.Genome research · 2007Article
- Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats.Nucleic acids research · 2007Article
- XX male with sex reversal and a de novo 11;22 translocation.American journal of medical genetics. Part A · 2006Article
- Palindrome-mediated chromosomal translocations in humans.DNA repair · 2006Review
- Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22).American journal of human genetics · 2006Article
- MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q.Human mutation · 2006Article
- 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
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
The t(11;22) is the only known recurrent, non-Robertsonian constitutional translocation. We have analyzed t(11;22) balanced-translocation carriers from multiple unrelated families by FISH, to localize the t(11;22) breakpoints on both chromosome 11 and chromosome 22. In 23 unrelated balanced-translocation carriers, the breakpoint was localized within a 400-kb interval between D22S788 (N41) and ZNF74, on 22q11. Also, 13 of these 23 carriers were tested with probes from chromosome 11, and, in each, the breakpoint was localized between D11S1340 and APOA1, on 11q23, to a region </=185 kb. Thus, the breakpoints on both chromosome 11 and chromosome 22 are clustered in multiple unrelated families. Supernumerary-der(22)t(11;22) syndrome can occur in the progeny of balanced-t(11;22) carriers, because of malsegregation of the der(22). There has been speculation regarding the mechanism by which the malsegregation occurs. To elucidate this mechanism, we have analyzed 16 of the t(11;22) families, using short tandem-repeat-polymorphism markers on both chromosome 11 and chromosome 22. In all informative cases the proband received two of three alleles, for markers above the breakpoint on chromosome 22 and below the breakpoint on chromosome 11, from the t(11;22)-carrier parent. These data strongly suggest that 3:1 meiosis I malsegregation in the t(11;22) balanced-translocation-carrier parent is the mechanism in all 16 families. Taken together, these results establish that the majority of t(11;22) translocations occur within the same genomic intervals and that the majority of supernumerary-der(22) offspring result from a 3:1 meiosis I malsegregation in the balanced-translocation carrier.
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