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 ?
6,7) Nevertheless, to the best of our knowledge, this is the first known report of a balanced translocation involving 1;X in a phenotypically normal girl with primary amenorrhea and tall stature.
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.
Thus a balanced translocation will not be detected on microarray testing, and an opportunity for genetic counseling could be missed.
3 Chromosomal abnormality accounts for only 4% of RM cases, with the most common abnormality being balanced translocation.
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.
The chromosomal abnormalities resulted from a paternal balanced translocation involving chromosomes 2 and 5 t(2;5)(q37.
Recurrent miscarriage can be associated with either partner having a balanced translocation.
Some of these abnormalities, including balanced translocation, have specific or diagnostic values, which may directly impact prognosis or therapeutic decision.