U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Alagille syndrome due to 20p12 microdeletion

MedGen UID:
1826025
•Concept ID:
C5679679
•
Disease or Syndrome
Synonyms: Alagille syndrome due to del(20)(p12); Alagille syndrome due to monosomy 20p12; Alagille-Watson syndrome due to monosomy 20p12; Arteriohepatic dysplasia due to monosomy 20p12; Syndromic bile duct paucity due to monosomy 20p12; syndromic bile duct paucity due to monosomy 20p12
 
Monarch Initiative: MONDO:0016861
Orphanet: ORPHA261600

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlagille syndrome due to 20p12 microdeletion

Recent clinical studies

Etiology

Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.
Mills KI, Anderson J, Levy PT, Cole FS, Silva JN, Kulkarni S, Shinawi M
Am J Med Genet A 2013 Jan;161A(1):137-44. Epub 2012 Dec 13 doi: 10.1002/ajmg.a.35701. PMID: 23239491

Diagnosis

Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.
Mills KI, Anderson J, Levy PT, Cole FS, Silva JN, Kulkarni S, Shinawi M
Am J Med Genet A 2013 Jan;161A(1):137-44. Epub 2012 Dec 13 doi: 10.1002/ajmg.a.35701. PMID: 23239491

Clinical prediction guides

Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients.
Deleuze JF, Hazan J, Dhorne S, Weissenbach J, Hadchouel M
Eur J Hum Genet 1994;2(3):185-90. doi: 10.1159/000472362. PMID: 7834278

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • 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...