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Distal trisomy 15q

MedGen UID:
419879
•Concept ID:
C2931705
•
Cell or Molecular Dysfunction
Synonyms: Chromosome 15, distal trisomy 15q; Distal Duplication 15q
 
Monarch Initiative: MONDO:0015728
Orphanet: ORPHA1707

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDistal trisomy 15q
Follow this link to review classifications for Distal trisomy 15q in Orphanet.

Recent clinical studies

Diagnosis

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.
Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB, Conlin LK
Am J Med Genet A 2015 Dec;167A(12):3091-5. Epub 2015 Jul 21 doi: 10.1002/ajmg.a.37261. PMID: 26198585Free PMC Article

Prognosis

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.
Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB, Conlin LK
Am J Med Genet A 2015 Dec;167A(12):3091-5. Epub 2015 Jul 21 doi: 10.1002/ajmg.a.37261. PMID: 26198585Free PMC Article

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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