Abstract
The chromosome instability syndromes represent a group of heritable disorders that share the common characteristics of increased spontaneous or induced chromosome breakage, hypersensitivity to various physical and chemical agents, and a predisposition to the development of neoplasia. Each syndrome has a distinct phenotype, although significant clinical heterogeneity exists and variant forms have been recognized. The four main syndromes usually included in this group are ataxia-telangiectasia (A-T), Bloom syndrome (BS), Fanconi anemia (FA), and xeroderma pigmentosum (XP), although several other entities, less thoroughly studied, have sometimes been included.
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Abbreviations
- A-T:
-
ataxia-telangiectasia
- ADPRT:
-
ADP-ribosyltransferase
- AFP:
-
α-fetoprotein
- AP:
-
apurinic/apyrimidinic
- ara-C:
-
cytosine arabinoside
- ATH:
-
ataxia-telangiectasia heterozygote
- BLM:
-
bleomycin
- BrdU:
-
bromodeoxyuridine
- BS:
-
Bloom syndrome
- cDNA:
-
complementary DNA
- CFA:
-
colony-forming ability
- CHO:
-
Chinese hamster ovary
- DEB:
-
diepoxybutane
- DMEM:
-
Dulbecco’s modified MEM
- DMSO:
-
dimethylsulfoxide
- DSB:
-
double-strand DNA break
- DSC:
-
De Sanctis-Cacchione syndrome
- DTH:
-
delayed-type hypersensitivity
- 8-MOP:
-
8-methoxypsoralen
- EMEM:
-
Eagle’s MEM
- EMS:
-
ethylmethanesulfonate
- ENU:
-
ethylnitrosourea
- ESS:
-
enzyme-sensitive sites
- 4NQO:
-
4-nitroquinoline-l-oxide
- 5-MOP:
-
5-methyoxypsoralen
- FA:
-
Fanconi anemia
- FA-ED:
-
Fanconi anemia, Estren-Dameshek subtype
- FAH:
-
Fanconi anemia heterozygote
- FLM:
-
fraction of labeled mitoses
- HAT:
-
hypoxanthine/aminopterin/thymidine
- HCR:
-
host cell reactivation
- HGPRT:
-
hypoxanthine-guanine phosphoribosyltransferase
- HMW:
-
high molecular weight
- Ig:
-
immunoglobulin
- IgH:
-
immunoglobulin, heavy chain
- INH:
-
isonicotinic acid hydrazide
- LCL:
-
lymphoblastoid cell line
- LMW:
-
low molecular weight
- MEM:
-
minimal essential medium
- MF:
-
microfilament
- MMC:
-
mitomycin C
- MMS:
-
methylmethanesulfonate
- MNNG:
-
N-methyl-N′-nitro-N-nitrosoguanidine
- NAAF:
-
N-acetoxy-2-acetylaminofluorene
- NBS:
-
Nijmegen breakage syndrome
- NCS:
-
neocarzinostatin
- NZB:
-
New Zealand black
- PAA:
-
primer-activating activity
- PCC:
-
premature chromosome condensation
- PHA:
-
phytohemagglutinin
- PLDR:
-
potentially lethal damage repair
- PMA:
-
phorbol-12-myristate-13-acetate
- PRR:
-
postreplication repair
- PSS:
-
progressive systemic sclerosis
- SCE:
-
sister chromatid exchange
- SLE:
-
systemic lupus erythematosus
- SN:
-
streptonigrin
- SOD:
-
superoxide dismutase
- SSB:
-
single-strand break
- topo:
-
topoisomerase
- TPA:
-
12-O-tetradecanoylphorbol-13-acetate
- UDS:
-
unscheduled DNA synthesis
- UV:
-
ultraviolet
- UVA:
-
ultraviolet-A
- VTM:
-
variegated translocation mosaicism
- WS:
-
Werner syndrome
- wst :
-
wasted
- XP:
-
xeroderma pigmentosum
- XPH:
-
xeroderma pigmentosum heterozygote
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Cohen, M.M., Levy, H.P. (1989). Chromosome Instability Syndromes. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 18. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0785-3_2
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