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Ring chromosome 19

MedGen UID:
419501
Concept ID:
C2931812
Cell or Molecular Dysfunction
Synonym: Chromosome 19 ring
 
Monarch Initiative: MONDO:0015435
Orphanet: ORPHA1443

Definition

Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRing chromosome 19
Follow this link to review classifications for Ring chromosome 19 in Orphanet.

Recent clinical studies

Diagnosis

Hermsen MA, Tijssen M, Acero IH, Meijer GA, Ylstra B, Toral JF
Eur J Med Genet 2005 Jul-Sep;48(3):310-8. doi: 10.1016/j.ejmg.2005.04.009. PMID: 16179226
Shahwan A, Green AJ, Carey A, Stallings RL, O'Flaherty OC, King MD
Epilepsia 2004 Aug;45(8):997-1000. doi: 10.1111/j.0013-9580.2004.00304.x. PMID: 15270770
Vaz I, Larkins SA, Norman A, Green SH
Dev Med Child Neurol 1999 Jan;41(1):48-50. doi: 10.1017/s0012162299000092. PMID: 10068050
Gillessen-Kaesbach G, Ngo NT
Prenat Diagn 1990 Oct;10(10):683-7. doi: 10.1002/pd.1970101009. PMID: 2274494

Prognosis

Shahwan A, Green AJ, Carey A, Stallings RL, O'Flaherty OC, King MD
Epilepsia 2004 Aug;45(8):997-1000. doi: 10.1111/j.0013-9580.2004.00304.x. PMID: 15270770

Clinical prediction guides

Argiropoulos B, Carter M, Brierley K, Hare H, Bouchard A, Al-Hertani W, Ryan SR, Reid J, Basik M, McGowan-Jordan J, Graham GE
Am J Med Genet A 2011 Apr;155A(4):885-91. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33918. PMID: 21416596

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

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