Evidence for position effects as a variantETV6-mediated leukemogenic mechanism in myeloid leukemias with a t(4;12)(q11-q12;p13) or t(5;12)(q31;p13)

Approximately one in 500 individuals carries a reciprocal translocation. Balanced translocations are usually associated with a normal phenotype unless the translocation breakpoints disrupt a gene(s) or cause a position effect. We investigated breakpoint junctions at the sequence level in phenotypically normal balanced translocation carriers. Eight breakpoint junctions derived from four nonrelated subjects with apparently balanced translocation t(1;22)(p36;q13) were examined. Additions of nucleotides, deletions, duplications, and a triplication identified at the breakpoints demonstrate high complexity at the breakpoint junctions and indicate involvement of multiple mechanisms in the DNA breakage and repair process during translocation formation. Possible detailed nonhomologous end-joining scenarios for t(1;22) cases are presented. We propose that cryptic imbalances in phenotypically normal, balanced translocation carriers may be more common than currently appreciated.

Breakpoint

Position effect

10.1101/gr.077453.108

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Citations (33)

A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.

Journal of Medical Genetics (1983)

D A Couzin J L Watt I.A. Auchterlonie

A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is the first time that such a complex double translocation has been reported. Both parents had normal karyotypes.

Breakpoint

10.1136/jmg.20.5.389

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Citations (14)

Significance of acquired nonrandom 7/14 translocations

American Journal of Medical Genetics (1985)

Kavita S. Reddy Irene Thomas

We have detected eight patients with a single metaphase having a 7/14 translocation. In all cases, the breakpoint on chromosome 14 was 14q12, while the breakpoint on chromosome 7 was 7q35 in three cases and 7p13 in five cases. The factors that may be involved in these nonrandom translocations are discussed.

10.1002/ajmg.1320220213

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Citations (18)

Balanced Translocation 46,t(13;18) (q21;q21) with Abnormal Phenotype: Possible Evidence for Position Effect in 18q21

Pediatric Research (1978)

Roberto Coco

Breakpoint

Position effect

Chromosomal rearrangement

Position (finance)

10.1203/00006450-197810000-00023

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