Triplication of distal chromosome 10q.
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ABSTRACT:
SUBMITTER: Devriendt K
PROVIDER: S-EPMC1734335 | biostudies-other | 1999 Mar
REPOSITORIES: biostudies-other
Publications
Triplication of distal chromosome 10q.
Devriendt K K Matthijs G G Holvoet M M Schoenmakers E E Fryns J P JP
Journal of medical genetics 19990301 3
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 assu ...[more]
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