U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

MedGen UID:
799445
•Concept ID:
CN201477
•
Disease or Syndrome
Synonyms: silver-Russell syndrome due to maternal uniparental disomy of chromosome 11; Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11; UPD(11)mat
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0016482
Orphanet: ORPHA231147

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSilver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Follow this link to review classifications for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 in Orphanet.

Recent clinical studies

Etiology

Silver-Russell syndrome in Hong Kong.
Luk HM, Yeung KS, Wong WL, Chung BH, Tong TM, Lo IF
Hong Kong Med J 2016 Dec;22(6):526-33. Epub 2016 Jul 29 doi: 10.12809/hkmj154750. PMID: 27468965

Diagnosis

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
Pignata L, Sparago A, Palumbo O, Andreucci E, Lapi E, Tenconi R, Carella M, Riccio A, Cerrato F
Genes (Basel) 2021 Apr 16;12(4) doi: 10.3390/genes12040581. PMID: 33923683Free PMC Article
Silver-Russell syndrome in Hong Kong.
Luk HM, Yeung KS, Wong WL, Chung BH, Tong TM, Lo IF
Hong Kong Med J 2016 Dec;22(6):526-33. Epub 2016 Jul 29 doi: 10.12809/hkmj154750. PMID: 27468965
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L
Clin Epigenetics 2016;8:23. Epub 2016 Mar 1 doi: 10.1186/s13148-016-0183-8. PMID: 26933465Free PMC Article

Clinical prediction guides

Silver-Russell syndrome in Hong Kong.
Luk HM, Yeung KS, Wong WL, Chung BH, Tong TM, Lo IF
Hong Kong Med J 2016 Dec;22(6):526-33. Epub 2016 Jul 29 doi: 10.12809/hkmj154750. PMID: 27468965

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...