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1991•American Journal of Medical GeneticsRequires access

Apparent Opitz BBBG syndrome with a partial duplication of 5p

Lawrence G. Leichtman, A Werner, W. Thomas Bass, Deborah Smith, Arthur R. Brothman

Open publisher page 24 citations

Abstract

We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.

About this research paper

What this paper is about

We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.

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OpenAlex reports 24 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.

Key concepts: Gene duplication, Genetics, Biology, Medicine, Internal medicine, Gene

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