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Chromosome 17p13.3 duplication syndrome

MedGen UID:
814630
•Concept ID:
C3808300
•
Disease or Syndrome
Synonym: Chromosome 17p13.3, centromeric, duplication syndrome
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:0013182
OMIM®: 613215
Orphanet: ORPHA217385

Definition

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 17p13.3 duplication syndrome

Recent clinical studies

Diagnosis

Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.
Stutterd CA, Francis D, McGillivray G, Lockhart PJ, Leventer RJ
Eur J Med Genet 2020 Apr;63(4):103774. Epub 2019 Oct 1 doi: 10.1016/j.ejmg.2019.103774. PMID: 31585183
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
Classen S, Goecke T, Drechsler M, Betz B, Nickel N, Beier M, Schaper J, Karenfort M, Royer-Pokora B
Am J Med Genet A 2013 Jun;161A(6):1453-8. Epub 2013 Apr 30 doi: 10.1002/ajmg.a.35904. PMID: 23633430

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