Chromosome 5, trisomy 5p

MedGen UID:: 419839
•Concept ID:: C2931575
•: Cell or Molecular Dysfunction

Synonyms:

Chromosome 5, Trisomy 5p, Complete (5p11-pter); Chromosome 5, Trisomy 5p, Partial (5p13 or 14-pter); Chromosome 5p syndrome

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital chromosomal disease
- CROGVAutosomal anomaly
  - CROGVAutosomal monosomy
    - CROGVRing chromosome
- CROGVAutosomal chromosomal disorder
  - CROGVChromosome 13q trisomy
  - CROGVChromosome 3, trisomy 3p
  - CROGVChromosome 5, trisomy 5p
  - CROGVComplete trisomy 13 syndrome
  - CROGVComplete trisomy 20 syndrome
  - CROGVDown syndrome
    - CROGVTranslocation Down syndrome
    - CROGVTrisomy 21
  - CROGVTrisomy 8
  - CROGVTrisomy 18
- CROGVRing chromosome anomaly
- CROGVSex-linked hereditary disorder

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital chromosomal disease
      - Autosomal chromosomal disorder
        Chromosome 5, trisomy 5p

Recent clinical studies

Clinical prediction guides

A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.

Krgovic D, Blatnik A, Burmas A, Zagorac A, Kokalj Vokac N
BMC Med Genet 2014 Feb 11;15:21. doi: 10.1186/1471-2350-15-21. PMID: 24517234 Free PMC Article

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Chromosome 5, trisomy 5p

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Recent clinical studies

Clinical prediction guides

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