The clinical significance of fragile sites on human chromosomes

Clinical Genetics

Volumn 58, Issue 3, 2000, Pages 157-161

  Sutherland, G R ^a   Baker, E ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CANCER CELL; CANCER RISK; CARCINOGENESIS; CHROMOSOME 11; CHROMOSOME DELETION; CHROMOSOME FRAGILE SITE; CHROMOSOME MAP; CONGENITAL DISORDER; CONTROLLED STUDY; FRAGILE X SYNDROME; GENETIC STABILITY; HUMAN; MENTAL DEFICIENCY; MICROSATELLITE INSTABILITY; ONCOGENE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGENY; REVIEW; SYNDROME;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOME FRAGILITY; FRAGILE X SYNDROME; GENETIC PREDISPOSITION TO DISEASE; HUMAN; MENTAL RETARDATION; PRENATAL DIAGNOSIS; X CHROMOSOME;

EID: 0033810575     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.580301.x     Document Type: Review

References (27)

1. Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X study preliminary data
2. Elevated levels of FMRI mRNA in carrier males: A new mechanism of involvement in the Fragile-X syndrome
3. Translational suppression by trinucleotide repeat expansion at FMR1
4. Imprinting effect in premature ovarian failure combined to paternally inherited fragile X premutations
5. Homozygotes for FRA16B are normal
6. Fragile sites
7. Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
8. Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B
9. Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q
10. A cascade of chromosome abberations in three generations. A fragile 16q, an extra fragment and a rearranged 20
11. Constitutive fragile sites and cancer
12. Instability at chromosomal fragile sites
13. Cancer-specific chromosome alterations in the constitutive fragile region FRA3B
14. Aberrant transcripts of the FHIT gene are expressed in normal and leukaemic haematopoietic cells
15. Genes encoding human caveolin-1 and-2 are co-localized to the D7S522 locus (7q31.1), a known fragile site (FRA7G) that is frequently deleted in human cancers
16. Deletion map of chromosome 16q in ductal carcinoma in situ of the breast: Refining a putative tumor suppressor gene region
17. Molecular characterisation of FRAXB and comparative fragile site instability in tumor cell lines
18. Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: A collaborative study
19. Folate sensitive site at 10q23 and its expression as a deletion
20. Fragile sites on human chromosomes
21. Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations
22. A variant of the fra(X) syndrome
23. New heritable fragile site with spontaneous expression at 1q41
24. An interstitial nucleolus organizer region in the long arm of human chromosome 7: Cytogenetic characterization and familial segregation
25. A new apparently folate sensitive fragile site, 5q35
26. Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature