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2000•American Journal of Medical GeneticsRequires access

Clinical findings in a patient mosaic for a supernumerary ring chromosome 20

Enrique Daniel Austin-Ward, Silvia Castillo, Yuri Dragnic, Patricia Sanz, Samuel Agustín Quinde Salazar, Joan H.M. Knoll

Open publisher page 9 citations

Abstract

Marker chromosomes present a problem in genetic counseling because there are often no clear phenotype-karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 20 determined by fluorescence in situ hybridization (FISH) and compare these findings to others reported in the literature.

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What this paper is about

Marker chromosomes present a problem in genetic counseling because there are often no clear phenotype-karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 20 determined by fluorescence in situ hybridization (FISH) and compare these findings to others reported in the literature.

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OpenAlex reports 9 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

Marker chromosomes present a problem in genetic counseling because there are often no clear phenotype-karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 20 determined by fluorescence in situ hybridization (FISH) and compare these findings to others reported in the literature.

Key concepts: Supernumerary, Small supernumerary marker chromosome, Fluorescence in situ hybridization, Karyotype, Marker chromosome, Biology, Genetics, Chromosome

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