balanced translocation


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balanced translocation

[′bal·ənst tranz·lō′kā·shən]
(genetics)
Positional change of one or more chromosome segments in cells or gametes without alteration of the normal diploid or haploid complement of genetic material.
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It has been reported that balanced translocation carriers have an increased risk of abnormal conceptions and miscarriages, [5] caused by either malsegregation of the derivative chromos omes or the generation of a recombinant chromosome.
We applied our exhaustive filtering-based methodology to demonstrate the first proof-of-principle study on the noninvasive detection of a fetal-specific balanced translocation by sequencing ccf DNA from maternal plasma.
The OncoChip technology assists physicians and clinicians by quickly identifying chromosome abnormalities, including gains, losses and balanced translocations to aid physicians in providing patient diagnosis and prognosis.
Preimplantation diagnosis and embryo selection is a possible way to reduce recurrent miscarriage if a partner has a balanced translocation.
This methodology, however, was unable to detect balanced translocations and triploidy.
A solitary, apparently balanced translocation is quite unusual in carcinomas in contrast to many hematologic malignancies and soft tissue tumors that often have a specific, diagnostic translocation.
In the present study, we found balanced translocation to be the most frequent structural aberration among these patients.
In our research on a variety of leukemia types and myeloproliferative neoplasms, we confirmed that not only are we able to comprehensively detect all types of known molecular mutations, but to identify also novel mutations, such as fusion partner genes resulting from balanced translocation events.
The mother carried a balanced translocation between chr14 and chr21 [45,XX,der(14;21)(q10;q10)], and a blood sample was obtained before chorionic villus sampling.
Of 3 cytogenetically informative cases, one revealed a clonal balanced translocation t(10;17)(q22;p13) and an interstitial deletion of chromosome 14, del(14)(q24.
When chromosomes 11 and 22 break, then exchange genetic material in a balanced translocation, the genes retain their normal function and a person carrying the abnormal chromosomes has no symptoms of disease.