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Results: 18

1.

Chromosomal Instability

The instability of chromosomes is attributed to the continuous formation of novel chromosome mutations. These mutations form at an elevated rate in comparison to the normal cell population. The increased frequency of structural chromosome aberrations can be caused by an abnormally high incidence of DNA double-strand breaks and translocations. Screening for chromosomal breakage and rearrangement is used as a diagnostic tool in Fanconi anemia. [from NCI]

MedGen UID:
263436
Concept ID:
C1257806
Cell or Molecular Dysfunction
2.

Instability

MedGen UID:
731956
Concept ID:
C1444783
Finding
3.

Genomic Instability

An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional. [from MeSH]

MedGen UID:
182518
Concept ID:
C0919532
Cell or Molecular Dysfunction
4.

DNA damage

Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS. [from MeSH]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction
5.

Aneuploidy

The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). [from MeSH]

MedGen UID:
294
Concept ID:
C0002938
Cell or Molecular Dysfunction
6.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
7.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
8.

Werner syndrome

Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years. [from GeneReviews]

MedGen UID:
12147
Concept ID:
C0043119
Disease or Syndrome
9.

Bloom syndrome

Bloom’s syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, highly characteristic sparseness of subcutaneous fat tissue throughout infancy and early childhood, and short stature throughout postnatal life that in most affected individuals is accompanied by an erythematous and sun-sensitive skin lesion of the face. Gastroesophageal reflux (GER) is common and very possibly responsible for infections of the upper respiratory tract, the middle ear, and the lung that occur repeatedly in most persons with BSyn. Although most affected individuals have normal intellectual ability, many exhibit a poorly defined (and little studied) learning disability. Women may be fertile, but menopause occurs unusually early; men are infertile. Serious medical complications that are much more common than in the general population and that also appear at unusually early ages are chronic obstructive pulmonary disease, diabetes mellitus resembling the adult-onset type, and cancer of a wide variety of types and anatomic sites. BSyn is very rare in all national and ethnic groups but is relatively less rare in Ashkenazi Jews. [from GeneReviews]

MedGen UID:
2685
Concept ID:
C0005859
Disease or Syndrome
10.

Colcemide

MedGen UID:
208835
Concept ID:
C0813866
Pharmacologic Substance
11.

Alkaloid

A member of a large group of substances found in plants and in some fungi. Alkaloids contain nitrogen and can be made in the laboratory. Nicotine, caffeine, codeine, and vincristine are alkaloids. Some alkaloids, such as vincristine, are used to treat cancer. [from NCI]

MedGen UID:
7968
Concept ID:
C0002062
Pharmacologic Substance
12.

Indole

bicyclic nitrogenous heterocyclic compounds. [from CRISP]

MedGen UID:
5785
Concept ID:
C0021236
Pharmacologic Substance
13.

Demecolcine

An alkaloid isolated from Colchicum autumnale L. and used as an antineoplastic. [from MeSH]

MedGen UID:
4183
Concept ID:
C0011259
Pharmacologic Substance
14.

Colchicine

A major alkaloid from Colchicum autumnale L. and found also in other Colchicum species. Its primary therapeutic use is in the treatment of gout, but it has been used also in the therapy of familial Mediterranean fever (PERIODIC DISEASE). [from MeSH]

MedGen UID:
3148
Concept ID:
C0009262
Pharmacologic Substance
15.

Chromosome Aberrations

irregularity in the number or structure of chromosomes that may alter the course of development. [from CRISP]

MedGen UID:
954
Concept ID:
C0008625
Cell or Molecular Dysfunction
16.

Alexander disease type I

Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. [from ORDO]

MedGen UID:
798691
Concept ID:
CN204729
Disease or Syndrome
17.

RECQL4 Gene Mutation

MedGen UID:
311193
Concept ID:
C1709812
Cell or Molecular Dysfunction
18.

BLM Gene Mutation

MedGen UID:
310484
Concept ID:
C1706890
Cell or Molecular Dysfunction

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