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12P trisomy: a syndrome?

Hoo Jj

Open publisher page 14 citations

Abstract

A 2 2/3-year-old girl with 12p trisomy resulting from a maternal translocation is presented. Her clinical symptoms are strikingly similar to the other four cases known in the literature. A characteristic combination of symptoms for a 12p trisomy syndrome is delineated.

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What this paper is about

A 2 2/3-year-old girl with 12p trisomy resulting from a maternal translocation is presented. Her clinical symptoms are strikingly similar to the other four cases known in the literature. A characteristic combination of symptoms for a 12p trisomy syndrome is delineated.

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OpenAlex reports 14 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

A 2 2/3-year-old girl with 12p trisomy resulting from a maternal translocation is presented. Her clinical symptoms are strikingly similar to the other four cases known in the literature. A characteristic combination of symptoms for a 12p trisomy syndrome is delineated.

Key concepts: Trisomy, Biology, Partial Trisomy, Chromosomal translocation, Genetics, Aneuploidy, Karyotype, Chromosome

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12P trisomy: a syndrome? — Research Paper | ScholarLens