Silver-Russell syndrome due to 11p15 microduplication

MedGen UID:: 1826103
•Concept ID:: C5680917
•: Disease or Syndrome

Synonym:	silver-Russell syndrome due to 11p15 microduplication
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Autosomal dominant inheritance (Orphanet) Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0016481
Orphanet:	ORPHA231144

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSilver-Russell syndrome due to 11p15 microduplication

Partial duplication of the short arm of chromosome 11
- Silver-Russell syndrome due to 11p15 microduplication

Recent clinical studies

Diagnosis

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.

Cytrynbaum C, Chong K, Hannig V, Choufani S, Shuman C, Steele L, Morgan T, Scherer SW, Stavropoulos DJ, Basran RK, Weksberg R
Am J Med Genet A 2016 Oct;170(10):2731-9. Epub 2016 Jul 4 doi: 10.1002/ajmg.a.37819. PMID: 27374371

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Prognosis

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

Boonen SE, Freschi A, Christensen R, Valente FM, Lildballe DL, Perone L, Palumbo O, Carella M, Uldbjerg N, Sparago A, Riccio A, Cerrato F
Clin Epigenetics 2016;8:69. Epub 2016 Jun 16 doi: 10.1186/s13148-016-0236-z. PMID: 27313795 Free PMC Article

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