Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.

doi:10.3390/genes12040588

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Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.

Genes - 17 Apr 2021

Tannorella Pierpaola, Minervino Daniele, Guzzetti Sara, Vimercati Alessandro, Calzari Luciano, Patti Giuseppa, Maghnie Mohamad, Allegri Anna Elsa Maria, Milani Donatella, Scuvera Giulietta, Mariani Milena, Modena Piergiorgio, Selicorni Angelo, Larizza Lidia, Russo Silvia

Abstract excerpt

Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based on six features: pre- and postnatal growth failure, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties (Netchine-Harbison clinical scoring system (NH-CSS)). The molecular mechanisms consist in (epi)genetic deregulations at multiple loci: the loss of methylation...

Topics

Adult
Child
Chromogranins
Chromosomes, Human, Pair 20
Diagnosis, Differential
Female
GTP-Binding Protein alpha Subunits, Gs
Genomic Imprinting
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Male

Maternal Age

Maternal Inheritance

Pathology, Molecular

Pedigree

Phenotype

Silver-Russell Syndrome

Uniparental Disomy

Source

Open in PubMed Open full text

Identifiers

PMID: 33920573
DOI: 10.3390/genes12040588
PMCID: PMC8073552

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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