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Article

Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.

European journal of medical genetics - 1 Jan 2000

Bernardini Laura, Capalbo Anna, D'Avanzo Maria Gabriella, Torrente Isabella, Grammatico Paola, Dell'Edera Domenico, Cavalcanti Denise Pontes, Novelli Antonio, Dallapiccola Bruno

Abstract excerpt

Genetic counselling of patients with small supernumerary ring chromosomes (sSRCs) can be difficult, especially in prenatal testing, due to the complexity in establishing a karyotype-phenotype correlation. In fact, it has been estimated that about 10% of extra ring(1) chromosomes are associated with an unremarkable phenotype. We report on five new cases of extra ring chromosomes(1) manifesting different clinical...

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Identifiers

PMID: 17236832
DOI: 10.1016/j.ejmg.2006.11.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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