Ring chromosome 13 syndrome

MedGen UID:: 1390110
•Concept ID:: C0795847
•: Disease or Syndrome

Synonyms:	Ring chromosome 13; Ring Chromosome 13 Syndrome
SNOMED CT:	Ring chromosome 13 syndrome (726723004); Ring chromosome 13 (726723004)

Definition

A chromosomal anomaly of chromosome 13 with characteristics of a widely variable phenotype ranging from mild to severe. Principle manifestations include intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. up-slanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies and genital abnormalities. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRing chromosome 13 syndrome

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Syndromic disease
      - Ring chromosome 13 syndrome

Professional guidelines

PubMed

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.

Quelin C, Spaggiari E, Khung-Savatovsky S, Dupont C, Pasquier L, Loeuillet L, Jaillard S, Lucas J, Marcorelles P, Journel H, Pluquailec-Bilavarn K, Bazin A, Verloes A, Delezoide AL, Aboura A, Guimiot F
Am J Med Genet A 2014 Oct;164A(10):2504-9. Epub 2014 Jun 26 doi: 10.1002/ajmg.a.36658. PMID: 24975584

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