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16p12.1p12.3 triplication syndrome

MedGen UID:
1814451
Concept ID:
C5680097
Disease or Syndrome
Synonyms: tetrasomy 16p12.1-p12.3; Tetrasomy 16p12.1p12.3; tetrasomy 16p12.1p12.3; Trip(16)(p12.1p12.3); trip(16)(p12.1p12.3)
SNOMED CT: 16p12.1p12.3 triplication syndrome (1251450006); Tetrasomy 16p12.1p12.3 (1251450006)
 
Monarch Initiative: MONDO:0044621
Orphanet: ORPHA485405

Definition

A rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16. The syndrome has characteristics of global developmental delay, pre or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or less commonly infantile hepatic disease. Patients are also reported to have tapered fingers. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV16p12.1p12.3 triplication syndrome

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