balanced translocation


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bal·anced trans·lo·ca·tion

translocation of the long arm of an acrocentric chromosome to another chromosome; an individual with a balanced translocation has a normal diploid genome and is clinically normal but has a chromosome count of 45 and as a result of asymmetric meiosis may have children lacking the genes on the translocated segment or have them in trisomy.

balanced translocation

the transfer of segments between nonhomologous chromosomes in such a way that the configuration and total number of chromosomes change, but each cell contains the normal amount of diploid or haploid genetic material. Usually the long arm of an acrocentric chromosome is transferred to another chromosome, and the small fragment containing the centromere is lost, leaving only 45 chromosomes. A person with a balanced translocation is phenotypically normal but may produce children with trisomies. Compare reciprocal translocation, robertsonian translocation.

bal·anced trans·lo·ca·tion

(bal'ănst tranz-lō-kā'shŭn)
Translocation of the long arm of an acrocentric chromosome to another chromosome; a person with a balanced translocation has a normal diploid genome and is clinically normal but has a chromosome count of 45 and as a result of asymmetric meiosis may have children lacking the genes on the translocated segment or having them in trisomy.
References in periodicals archive ?
This meant that the male partner was a carrier of a balanced translocation involving chromosomes 5, 8 and 12.
Poster #708: Noninvasive prenatal testing aids in detecting parental balanced translocation and highlights limitations of karyotyping.
Doctors told Lynn she was suffering from a balanced translocation, a genetic condition which meant she could struggle to carry a baby full term.
For example, given 100X genome coverage, a commonly observed fetal fraction of 10% (11), and a perfectly balanced translocation event, one would expect 10 (adjusted for diploid genome and 2 reciprocal breakpoint events) of the billions of ccf DNA fragments to contain the breakpoint.
Based on these results, they suggested activation of a growth promoting gene through balanced translocation as the pathogenic mechanism.
16] identified the breakpoints of the EEC1 balanced translocation to 7q11.
In a second case, respondents were asked whether they would tell a couple which partner carried a balanced translocation of chromosomal material that had caused Down syndrome in their child.
The TA microarray option detects the clinically relevant balanced translocations identified by FISH and karyotype and precisely recognizes balanced translocation breakpoints, as well as balanced translocation partners not distinguishable by these methods.
Recurrent miscarriage can be associated with either partner having a balanced translocation.
8 weeks' gestation identified a de novo balanced translocation between the long arms of chromosomes 6 and 8.