Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.

AUTOR(ES)

Nevin, N C

RESUMO

At least 16 cases of inversion tandem duplications of the short arm of chromosome 8 have been reported. Structural rearrangements of chromosome 8 have made it possible to localise the gene for glutathione reductase (GSR) to 8p21.1. We report here on a 16 month old boy with mental retardation with partial trisomy 8 owing to a de novo inv dup(8)(p12----p23.1).

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