Mutation

(redirected from Chromosomal deletion)
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Related to Chromosomal deletion: Chromosomal inversion

MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

References in periodicals archive ?
We'd like to look for uniparental disomy in many of the large number of syndromes we believe are inherited but that don't show evidence of chromosomal deletions," says Judith G.
Abbott's Vysis EGR1 FISH Probe Kit, the third Abbott FISH assay approved or cleared in the past two months by the FDA for oncology applications, detects a chromosomal deletion in bone marrow that is usually associated with an unfavorable prognosis for AML patients.
Knoll and Marc Lalande of the Children's Hospital in Boston and their co-workers performed genetic analyses on six families with Prader-Willi children who lack the characteristic chromosomal deletion.
The second test requires that a loss of expression -- an inactivitation of the gene through either a chromosomal deletion or DNA mutation -- lead to a cancerous cell.
22q11 deletion syndrome is considered one of the most common chromosomal deletions associated with birth defects and leads to a wide range of health problems, from heart defects to behavioral disorders.
Pathogenic copy number changes smaller than approximately 5-10 Mb are not detectable; however, recent advances in chromosomal microarray (CMA) [2a] analysis now allow the detection of chromosomal deletions and duplications at much higher resolutions (down to only a few kilobases, depending on the microarray), producing a higher diagnostic yield.