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Fragility, Chromosome

MedGen UID:
3074
•Concept ID:
C0008629
•
Cell or Molecular Dysfunction
Synonyms: Chromosomal Fragility; Chromosome Fragility; Fragility, Chromosomal

Definition

Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFragility, Chromosome

Professional guidelines

PubMed

A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound.
Kennelly MM, Moran P
Prenat Diagn 2007 Aug;27(8):730-7. doi: 10.1002/pd.1770. PMID: 17533626

Recent clinical studies

Etiology

Relationship between chromosome fragility, aneuploidy and severity of the haematological disease in Fanconi anaemia.
Callén E, Ramírez MJ, Creus A, Marcos R, Ortega JJ, Olivé T, Badell I, Surrallés J
Mutat Res 2002 Jul 25;504(1-2):75-83. doi: 10.1016/s0027-5107(02)00081-7. PMID: 12106648
Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes.
Lichter P, Bray P, Ried T, Dawid IB, Ward DC
Genomics 1992 Aug;13(4):999-1007. doi: 10.1016/0888-7543(92)90013-i. PMID: 1505991
Cytogenetic instability in a family with gastric cancer recurrence.
Di Lernia R, Magnani I, Doneda L, Rizzi R, Larizza L
Cancer Genet Cytogenet 1987 Aug;27(2):299-310. doi: 10.1016/0165-4608(87)90012-4. PMID: 3474056

Clinical prediction guides

Relationship between chromosome fragility, aneuploidy and severity of the haematological disease in Fanconi anaemia.
Callén E, Ramírez MJ, Creus A, Marcos R, Ortega JJ, Olivé T, Badell I, Surrallés J
Mutat Res 2002 Jul 25;504(1-2):75-83. doi: 10.1016/s0027-5107(02)00081-7. PMID: 12106648
Cytogenetic instability in a family with gastric cancer recurrence.
Di Lernia R, Magnani I, Doneda L, Rizzi R, Larizza L
Cancer Genet Cytogenet 1987 Aug;27(2):299-310. doi: 10.1016/0165-4608(87)90012-4. PMID: 3474056

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    Related information

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