Triplication of distal chromosome 10q.
case_report · Level V
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- Record sourced from PubMed, PMID 10204854.
- Also identified by PMC identifier 1734335.
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Abstract
We describe a patient with a de novo chromosomal aberration with karyotype 46,XY,10q+, presenting clinical features of partial duplication of distal chromosome 10q. Further studies using microsatellites and FISH showed a triplication of distal chromosome 10q. The rearrangement involved both maternal homologues and the middle chromosomal 10q fragment of the triplication was inverted, similar to previously reported chromosomal triplications. Chromosomal triplications may be more frequent than assumed and may share a common molecular mechanism.
Medical subject headings
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosomes, Human, Pair 10