title: Triplication of distal chromosome 10q.
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.
authors: Centre for Human Genetics, University of Leuven, Belgium.
authors: K
authors: K
authors: Devriendt
authors: G
authors: G
authors: Matthijs
authors: M
authors: M
authors: Holvoet
authors: E
authors: E
authors: Schoenmakers
authors: J P
authors: JP
authors: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002879:Chromosomes, Human, Pair 10; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008297:Male