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Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort
We report the analyses of breakpoints in 31 phenotypically normal and 14 abnormal carriers of balanced translocations. Our study assesses the differences between balanced translocations in normal carriers and those in abnormal carriers, focusing on the presence of genomic imbalances at the breakpoints or elsewhere in the genome, presence of cryptic chromosome rearrangements, and gene disruption. Our hypothesis is that all four features will be associated with phenotypic abnormalities and absent or much less frequent in a normal population. In the normal cohort, we identified neither genomic imbalances at the breakpoints or elsewhere in the genome nor cryptic chromosome rearrangements. In contrast, we identified candidate disease-causing imbalances in 4/14 abnormal patients. These were three breakpoint associated deletions and three deletions unrelated to the breakpoints. All six de novo deletions originated on the paternally inherited chromosome. Additional complexity was also present in one of these cases. Gene disruption by the breakpoints was present in 16/31 phenotypically normal individuals and in 5/14 phenotypically abnormal patients. Our results show that translocations in phenotypically abnormal patients are molecularly distinct from those in normal individuals: the former are more likely to be associated with genomic imbalances at the breakpoints or elsewhere and with chromosomal complexity, whereas the frequency of gene disruption is similar in both normal and abnormal translocation carriers
comparative study, chromosome breakage, chromosome disorders, chromosome deletion, adolescent, research support, laboratories, male, cohort, translocation, in situ hybridization, cohort studies, karyotyping, hypothesis, chromosome mapping, genetic, child, phenotype, female, research, report, abnormalities, diagnosis, middle aged, adult, fluorescence, humans, patients, genome, genetics, oligonucleotide array sequence analysis, population
0002-9297
927-936
Baptista, J.
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Mercer, C.
5889a50a-0e0b-49cd-94d0-4184c5f303d0
Prigmore, E.
927d327c-f0f6-4e37-88f8-47de5a8e5a82
Gribble, S.M.
01b3b3bd-746f-4815-96ec-b8cb2c772554
Carter, N.P.
d9377125-5da4-45eb-bfbf-4e797d1c048a
Maloney, V.
07e33c11-8048-490b-b93f-ae53f878d002
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Jacobs, P.A.
32993834-5b30-4706-a09b-640baf848c49
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Baptista, J.
9f4f967b-773c-4375-93e6-3d8daf773e02
Mercer, C.
5889a50a-0e0b-49cd-94d0-4184c5f303d0
Prigmore, E.
927d327c-f0f6-4e37-88f8-47de5a8e5a82
Gribble, S.M.
01b3b3bd-746f-4815-96ec-b8cb2c772554
Carter, N.P.
d9377125-5da4-45eb-bfbf-4e797d1c048a
Maloney, V.
07e33c11-8048-490b-b93f-ae53f878d002
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Jacobs, P.A.
32993834-5b30-4706-a09b-640baf848c49
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c

Baptista, J., Mercer, C., Prigmore, E., Gribble, S.M., Carter, N.P., Maloney, V., Thomas, N.S., Jacobs, P.A. and Crolla, J.A. (2008) Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. The American Journal of Human Genetics, 82 (4), 927-936. (doi:10.1016/j.ajhg.2008.02.012).

Record type: Article

Abstract

We report the analyses of breakpoints in 31 phenotypically normal and 14 abnormal carriers of balanced translocations. Our study assesses the differences between balanced translocations in normal carriers and those in abnormal carriers, focusing on the presence of genomic imbalances at the breakpoints or elsewhere in the genome, presence of cryptic chromosome rearrangements, and gene disruption. Our hypothesis is that all four features will be associated with phenotypic abnormalities and absent or much less frequent in a normal population. In the normal cohort, we identified neither genomic imbalances at the breakpoints or elsewhere in the genome nor cryptic chromosome rearrangements. In contrast, we identified candidate disease-causing imbalances in 4/14 abnormal patients. These were three breakpoint associated deletions and three deletions unrelated to the breakpoints. All six de novo deletions originated on the paternally inherited chromosome. Additional complexity was also present in one of these cases. Gene disruption by the breakpoints was present in 16/31 phenotypically normal individuals and in 5/14 phenotypically abnormal patients. Our results show that translocations in phenotypically abnormal patients are molecularly distinct from those in normal individuals: the former are more likely to be associated with genomic imbalances at the breakpoints or elsewhere and with chromosomal complexity, whereas the frequency of gene disruption is similar in both normal and abnormal translocation carriers

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More information

Published date: 2008
Keywords: comparative study, chromosome breakage, chromosome disorders, chromosome deletion, adolescent, research support, laboratories, male, cohort, translocation, in situ hybridization, cohort studies, karyotyping, hypothesis, chromosome mapping, genetic, child, phenotype, female, research, report, abnormalities, diagnosis, middle aged, adult, fluorescence, humans, patients, genome, genetics, oligonucleotide array sequence analysis, population
Organisations: Human Genetics

Identifiers

Local EPrints ID: 59461
URI: https://eprints.soton.ac.uk/id/eprint/59461
ISSN: 0002-9297
PURE UUID: 6537cd76-3cef-4d1d-bfda-dd4d705acd1c

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Date deposited: 02 Sep 2008
Last modified: 13 Mar 2019 20:30

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Contributors

Author: J. Baptista
Author: C. Mercer
Author: E. Prigmore
Author: S.M. Gribble
Author: N.P. Carter
Author: V. Maloney
Author: N.S. Thomas
Author: P.A. Jacobs
Author: J.A. Crolla

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