Preferred Label : chromosome fragile sites;
MeSH definition : Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in
closer views) on a CHROMATID arm after culturing cells under specific conditions.
These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified
as common or rare, and by the specific culture conditions under which they develop.
Fragile site loci are named by the letters FRA followed by a designation for the specific
chromosome, and a letter which refers to which fragile site of that chromosome (e.g.
FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive
fragile site associated with FRAGILE X SYNDROME.);
MeSH synonym : fragile site, chromosome; fragile sites, chromosome; chromosome fragile site; site, chromosome fragile; sites, chromosome fragile;
Origin ID : D043283;
UMLS CUI : C0677504;
Allowable qualifiers
- Currated CISMeF NLP mapping
- Record concept(s)
- See also
- Semantic type(s)
- UMLS correspondences (same concept)
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in
closer views) on a CHROMATID arm after culturing cells under specific conditions.
These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified
as common or rare, and by the specific culture conditions under which they develop.
Fragile site loci are named by the letters FRA followed by a designation for the specific
chromosome, and a letter which refers to which fragile site of that chromosome (e.g.
FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive
fragile site associated with FRAGILE X SYNDROME.)
