Pure trisomy 10p involving an isochromosome 10p

Authors: Berend, Sue Ann; Shaffer, Lisa G; Bejjani, Bassem A

Source: Clinical Genetics, Volume 55, Number 5, May 1999 , pp. 367-371(5)

Publisher: Blackwell Publishing

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Abstract:

We report a child with trisomy 10p due to a translocation of the long arm of chromosome 10 to the short arm of chromosome 14 and isochromosome formation of 10p [46,XX,i(10)(p10),der(14)t(10;14)(q10;p10)]. Most reported cases of trisomy 10p involve double segmental imbalance. In contrast, the clinical features described in the current case represent pure trisomy 10p and, thus, delineate the 10p trisomy syndrome phenotype. Mechanisms of the chromosomal rearrangements in this case are suggested.

Keywords: isochromosome; translocation; trisomy 10p

Document Type: Research article

DOI: 10.1034/j.1399-0004.1999.550512.x

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