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2002•American Journal of Medical GeneticsRequires access

Supernumerary marker chromosomes 5: Confirmation of a critical region and resultant phenotype

Loredana D'Amato Sizonenko, Daniel P. K. Ng, Paul Oei, Ingrid Winship

Open publisher page 25 citations

Abstract

A critical region exists at 5p13 for the phenotype associated with duplication 5p. Two unrelated Polynesian children are reported with supernumerary marker chromosomes (SMCs) 5. This brings to seven the total of reported SMCs derived from chromosome 5. The phenotype is clear, and the level of mosaicism of the marker chromosomes is contributory to the clinical severity.

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What this paper is about

A critical region exists at 5p13 for the phenotype associated with duplication 5p. Two unrelated Polynesian children are reported with supernumerary marker chromosomes (SMCs) 5. This brings to seven the total of reported SMCs derived from chromosome 5. The phenotype is clear, and the level of mosaicism of the marker chromosomes is contributory to the clinical severity.

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OpenAlex reports 25 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

A critical region exists at 5p13 for the phenotype associated with duplication 5p. Two unrelated Polynesian children are reported with supernumerary marker chromosomes (SMCs) 5. This brings to seven the total of reported SMCs derived from chromosome 5. The phenotype is clear, and the level of mosaicism of the marker chromosomes is contributory to the clinical severity.

Key concepts: Supernumerary, Phenotype, Small supernumerary marker chromosome, Marker chromosome, Genetics, Biology, Chromosome, Clinical phenotype

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