robertsonian translocation


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Related to robertsonian translocation: mosaicism

translocation

 [trans″lo-ka´shun]
the attachment of a fragment of one chromosome to a nonhomologous chromosome.
Translocation of a portion of one chromosome to another chromosome. Redrawn from Damjanov, 2000.
reciprocal translocation the mutual exchange of fragments between two broken chromosomes, one part of one uniting with part of the other.
robertsonian translocation that in which the breaks occur at the centromeres and entire chromosome arms are exchanged, usually involving two acrocentric chromosomes.

ro·bert·so·ni·an trans·lo·ca·tion

translocation in which the centromeres of two acrocentric chromosomes appear to have fused, forming an abnormal chromosome consisting of the long arms of two different chromosomes with loss of the short arms. A carrier of a balanced robertsonian translocation has only 45 chromosomes but near normal chromosomal complement and a clinically normal phenotype; however, he or she is at risk of having a child with unbalanced chromosomal complement. A person with an unbalanced robertsonian translocation is trisomic for the long arm of the chromosome.
Synonym(s): centric fusion
[W.R.B. Robertson, U.S. geneticist.]

ro·bert·so·ni·an trans·lo·ca·tion

(rob'ĕrt-sō'nē-ăn tranz'lō-kā'shŭn)
Translocation in which the centromeres of two acrocentric chromosomes appear to have fused, forming an abnormal chromosome consisting of the long arms of two different chromosomes; if the translocation is balanced, the individual is clinically normal but a carrier of the translocation; if the translocation is unbalanced, the individual is trisomic for the long arm of a chromosome.
Synonym(s): centric fusion.
[W.R.B. Robertson, U.S. geneticist.]

Robertson,

W.R.B., U.S. geneticist, 1881–.
robertsonian translocation - translocation in which the centromeres of two acrocentric chromosomes appear to have fused, forming an abnormal chromosome. Synonym(s): centric fusion
References in periodicals archive ?
Case report: Potential speciation in humans involving Robertsonian translocations. Biomed Res.
The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet.
Since an affected child with reciprocal translocation 8; 21 and an another child with Robertsonian translocation 14q; 21q, have inherited translocation from their mother side, the recurrence risk is significantly much higher (10-15 %).
Robertsonian translocations: Cytology, meiosis, segregation patterns, and biological consequences of heterozygosity.
The carrier of a Robertsonian translocation between chromosomes 13;15 has only 45 chromosomes, an event that leads to an early pregnancy loss or to the birth of a neonate with multiple defects.
Homozygosity for a Robertsonian Translocation (13q; 14q) in an Otherwise Healthy 44, XY Man With a History of Repeated Fetal Losses.
Robertsonian translocations cytology, meiosis, segregation patterns, and biological consequences of heterozygosity.
In the present study, the female partner exhibited a balanced Robertsonian translocation, with 45 chromosomes.
The test cannot, for instance, detect balance rearrangements, such as balanced reciprocal translocations, balanced Robertsonian translocations, and inversions.
Furthermore, use of this locus should enable the detection of unbalanced Robertsonian translocations involving the Down's region of chromosome 21, which occur in ~4% of Down syndrome cases (6).
Kinetics of oogenesis in mice heterozygous for Robertsonian translocations. Differentiation 42:167-171.
The most common types of karyotypic abnormality include sex chromosomal abnormalities and Robertsonian translocations. The frequency of somatic chromosomal abnormalities in infertile men varies from 3%-19%: that is 3% in the cases of mild infertility and 19% in men with non-obstructive azoospermia (NOA).