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Article

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.

International journal of molecular sciences - 11 Nov 2020

Catusi Ilaria, Bonati Maria Teresa, Mainini Ester, Russo Silvia, Orlandini Eleonora, Larizza Lidia, Recalcati Maria Paola

Abstract excerpt

Maternal uniparental disomy of chromosome 7 is present in 5-10% of patients with Silver-Russell syndrome (SRS), and duplication of 7p including GRB10 (Growth Factor Receptor-Bound Protein 10), an imprinted gene that affects pre-and postnatal growth retardation, has been associated with the SRS phenotype. Here, we report on a 17 year old girl referred to array-CGH analysis for short stature, psychomotor delay, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33187293
DOI: 10.3390/ijms21228487
PMCID: PMC7698152

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