The Recurrent t(11;22)(q23;q11.2) Can Occur as a Post-Zygotic Event
- 14 December 2018
- journal article
- research article
- Published by S. Karger AG in Cytogenetic and Genome Research
- Vol. 156 (4), 185-190
- https://doi.org/10.1159/000494648
Abstract
The AT-rich repeat on chromosome 22q11.2 is known to be involved in the recurrent constitutional t(11;22)(q23;q11.2). Segregation of this translocation has been reported in several hundred families, but a de novo translocation event has been identified in only 8 cases, and everytime the translocation originated in paternal germ-line chromosomes. Further, de novo t(11;22) rearrangements have been detected in the sperm of healthy males, leading to the hypothesis that it occurs somewhere along the meiosis-spermatogenesis pathway. This report describes a woman whose constitutional karyotype revealed mosaicism for the recurrent t(11;22) and the subsequent testing performed to determine the origin of the translocation event. Karyotype analysis, translocation-specific PCR, human identity testing, and a SNP genotyping array were performed to detect mosaicism and/or chimerism. As a result, the SNP genotyping array revealed no evidence for mosaicism in genomic DNA beyond mosaicism for the balanced t(11;22). Human identity testing and the SNP genotyping array ruled out chimerism. PCR of the translocation breakpoint followed by sequencing confirmed that the translocation had occurred at the typical t(11;22) breakpoints. In conclusion, these results indicate that the translocation occurred post-fertilization, providing the first evidence of a de novo t(11;22)(q23;q11.2) occurring in a maternal mitotic environment.Keywords
This publication has 9 references indexed in Scilit:
- Paternal origin of the de novo constitutional t(11;22)(q23;q11)European Journal of Human Genetics, 2010
- Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysisHuman Molecular Genetics, 2010
- Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individualsAmerican Journal of Medical Genetics Part A, 2009
- Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal malesNature Genetics, 2001
- AT-Rich Palindromes Mediate the Constitutional t(11;22) TranslocationAmerican Journal of Human Genetics, 2001
- Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22)American Journal of Human Genetics, 2000
- Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).Human Molecular Genetics, 2000
- The 11q;22q translocation: A European collaborative analysis of 43 casesHuman Genetics, 1980
- Site‐specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunctionAmerican Journal of Medical Genetics, 1980