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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

Term Hierarchy

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

Professional guidelines

PubMed

Prenatal diagnosis of partial trisomy 14q (14q31.1-->qter) and partial monosomy 5p (5p13.2-->pter) associated with polyhydramnios, short limbs, micropenis and brain malformations.

Chen CP, Chern SR, Tsai EJ, Lee CC, Chen LF, Wang W
Genet Couns 2009;20(3):281-8. PMID: 19852436

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

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

ClinicalTrials.gov

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See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

Consumer resources

Reviews

Related information

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Chromosome 5, trisomy 5p
Chromosome 5, trisomy 5p

MedGen
Chromosome 3, trisomy 3p
Chromosome 3, trisomy 3p

MedGen
Chromosome 13q trisomy
Chromosome 13q trisomy

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Autosomal chromosomal disorder
Autosomal chromosomal disorder

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Ring chromosome
Ring chromosome

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