Silver-Russell syndrome due to 7p11.2p13 microduplication

MedGen UID:: 1826059
•Concept ID:: C5679840
•: Disease or Syndrome

Synonyms:	Silver-Russell syndrome due to 7p11.2-p13 microduplication; silver-Russell syndrome due to 7p11.2p13 microduplication; Silver-Russell syndrome due to dup(7)(p11.2p13); Silver-Russell syndrome due to trisomy 7p11.2-p13; Silver-Russell syndrome due to trisomy 7p11.2p13
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:0016479
Orphanet:	ORPHA231137

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSilver-Russell syndrome due to 7p11.2p13 microduplication

Partial duplication of the short arm of chromosome 7
- Silver-Russell syndrome due to 7p11.2p13 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

Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome.

Van De Pette M, Tunster SJ, McNamara GI, Shelkovnikova T, Millership S, Benson L, Peirson S, Christian M, Vidal-Puig A, John RM
PLoS Genet 2016 Mar;12(3):e1005916. Epub 2016 Mar 10 doi: 10.1371/journal.pgen.1005916. PMID: 26963625 Free PMC Article

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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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