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Large duplications at reciprocal translocation breakpoints that might be the counterpart of large deletions and could arise from stalled replication bubbles

KD Howarth, J Pole, JC Beavis, EM Batty… - Genome …, 2011 - genome.cshlp.org
Reciprocal chromosome translocations are often not exactly reciprocal. Most familiar are deletions
at the breakpoints, up to megabases in extent. We describe here the opposite
phenomenon—duplication of tens or hundreds of kilobases at the breakpoint junction, so ...
Cited by 2 - Related articles - All 6 versions

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

ACJ Gijsbers, JG Dauwerse, CAJ Bosch… - European Journal of …, 2011 - Elsevier
The first case is a mentally retarded male who carries an unbalanced translocation in 87% of
his cells. The phenotypically normal mother carries the balanced form of the translocation in
all her cells. The second case is a phenotypically normal female who has an unbalanced ...
Related articles - All 2 versions

Clinical and molecular characterization of a transmitted reciprocal translocation t (1; 12)(p32. 1; q21. 3) in a family co-segregating with mental retardation, language …

[PDF] from biomedcentral.comHM Liao, JS Fang, YJ Chen, KL Wu… - BMC Medical …, 2011 - biomedcentral.com
This Provisional PDF corresponds to the article as it appeared upon acceptance. Fully formatted
PDF and full text (HTML) versions will be made available soon. ... Clinical and molecular characterization
of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating ...
Related articles - All 4 versions

A patient with apparently reciprocal translocation and cryptic 10p deletion

L Wu, X Liao, H Wang, Z Zhou… - American Journal of …, 2011 - Wiley Online Library
How to Cite this Article: Wu L, Liao X, Wang H, Zhou Z, Lv W, Liang D. 2011. A patient with apparently
reciprocal translocation and cryptic 10p deletion. Am J Med Genet Part A. ... Lingqian Wu and
Xi Liao contributed equally to this work. ... No abstract is available for this article.
All 2 versions

Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation.

Y Ye, Y Luo, Y Qian, C Xu… - Fertility and sterility, 2011 - ncbi.nlm.nih.gov
OBJECTIVE: To report the first case of cri du chat syndrome after preimplantation genetic diagnosis
(PGD) for reciprocal translocation. DESIGN: Case report. SETTING: In vitro fertilization center
in a university affiliated hospital. PATIENT(S): A woman carrying at(11;22)(q23;q11.2) ...
All 2 versions

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