Results 251 to 260 of about 157,687 (296)

Chromosome Instability Syndromes

1993
Several mutant genes are known that greatly increase the incidence of chromosome aberrations and have striking clinical effects. The most extensively studied of these autosomal recessive disorders are Bloom syndrome (BS), Fanconi anemia (FA), and ataxia telangiectasia (AT).
Eeva Therman, Millard Susman
openaire   +1 more source

Possible hereditary Y‐chromosome instability

Pediatrics International, 1994
AbstractA 9 year old boy, born to a phenotypically normal, non‐consanguineous couple was referred for clinical examination due to radio‐ulnar synostosis. We made cytogenetic analyses to investigate the genotype‐phenotype correlation. Chromosomal studies on the boy and his father revealed a very small Y chromosome in both cases, probably due to loss of ...
E, Zeniya, K, Iinuma, M, Kato
openaire   +2 more sources

Chromosome instability syndromes

1992
Abstract A number of clinically diverse inherited human diseases, unified by the abnormal behaviour of their chromosomes, are sometimes grouped together under the heading of chromosome instability syndromes. Depending on the syndrome, the abnormal chromosome behaviour may take the form of:
R T Howell, A M R Taylor
openaire   +1 more source

Chromosome Instability Syndromes

2018
Abstract A defect of DNA repair is the factor underlying the chromosome instability syndromes, also known as chromosome breakage syndromes. The “instability” refers to the predisposition of the chromosomes to undergo rearrangement or to display other abnormal cytogenetic behavior.
R. J McKinlay Gardner, David J Amor
openaire   +1 more source

Chromosomal instability in bladder cancer

Archives of Toxicology, 2008
Chromosomal instability (CIN) distinguishes invasive urothelial carcinomas from less malignant papillary subtypes. Recent results implicate checkpoint dysfunction as a crucial factor underlying the emergence of aneuploidy in urothelial carcinogenesis. It may moreover contribute to DNA repair defects.
Andrea R, Florl, Wolfgang A, Schulz
openaire   +2 more sources

Chromosome Instability Syndromes

2011
Abstract A DEFECT OF DNA repair is the factor underlying the chromosome instability syndromes, also known as chromosome breakage syndromes (Brewer et al., 1997; Michelson and Weinert, 2000; Taylor, 2001). The “instability” refers to the predisposition of the chromosomes to undergo rearrangement or to display other abnormal cytogenetic
R. J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer   +2 more
openaire   +1 more source

[Chromosome instability syndromes].

La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1983
Chromosome instability syndromes are defined by either an increase of chromosomal breakage or by an increase of sister chromatid exchange number, or by an increase of the two. Bloom's syndrome, Ataxia telangiectasia, Fanconi's Anemia are the main components of this group. The incidence of cancers or malignant blood diseases is high.
D, Germain, A, Bernheim
openaire   +2 more sources

[Chromosome instability syndromes].

Casopis lekaru ceskych, 2002
We refer 55 cases of the chromosomal instability syndromes (SCI), diagnosed in patients of our genetical clinics. Problems of early diagnosis can be documented by a discrepancy between the expected number of patients and their relative advanced age at the time when SCI was ascertained.
E, Seemanová, P, Seeman, P, Jarolím
openaire   +1 more source

Genetically determined chromosome instability syndromes

Cytogenetic and Genome Research, 1982
Spontaneously increased chromosomal instability is well documented in the three autosomal recessive diseases, Fanconi’s anemia (FA), Bloom’s syndrome (BS), and ataxia telangiectasia (AT). Other conditions have been reported to be associated with chromosomal breakage. Some are still single observations: in Werner’s syndrome only fibroblasts are affected,
openaire   +2 more sources

[Chromosome instability syndromes].

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, 2006
Defects of DNA repair underlie genetic syndromes. Chromosomal aberrations and mutations might cause specific inborn defects. There are several syndromes with characteristic clinical features, which appear to be caused by chromosome instability which is a consequence of DNA repair defects.
Agnieszka, Tomaszewska, Małgorzata, Srebniak, Agnieszka, Gnyś   +2 more
openaire   +1 more source