Uniparental isodisomy due to duplication of chromosome 21 occuring in somatic cells monosomic for chromosome 21
References (36)
- et al.
Linkage mapping of DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat
Genomics
(1990) - et al.
Uniparental paternal disomy in Angelman's syndrome
Lancet
(1991) - et al.
Molecular genetic approach to the characterization of the “Down syndrome” region on chromosome 21
Genomics
(1989) - et al.
Linkage mapping of highly informative DNA polymorphisms within the human interferon-α receptor gene on chromosome 21
Genomics
(1991) - et al.
Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker
Genomics
(1990) - et al.
A genetic linkage map of 27 markers on human chromosome 21
Genomics
(1991) - et al.
A genetic linkage map of 17 markers on human chromosome 21
Genomics
(1989) - et al.
Am. J. Med. Genet
(1991) - et al.
Dinucleotide repeat polymorphism located at D21S120
Nucleic Acids Res
(1990) - et al.
Expression of recessive alleles by chromosomal mechanisms in retinoblastoma
Nature
(1983)
The in vitro isolation and characterization of monosomic sublines derived from a colcemid treated Chinese hamster cell population
Cytogenet. Cell Genet
The poly A tail of Alu repetitive elements is polymorphic in the human genome (AluVpA)
A new genetic concept: Uniparental disomy and its potential effect, isodisomy
Am. J. Med. Genet
Uniparental disomy, isodisomy, and imprinting: Probagle effects in man strategies for their detection
Am. J. Med. Genet
Expression of recessive Aprt− mutations in mouse CAK cells resulting from chromosome loss and duplication
Somat. Cell Genet
Analysis of human chromosome 21: Correlation of physical and cytogenetic maps; gene and CpG island distribution
EMBO J
Genomic imprinting: Review and relevance to human disease
Am. J. Hum. Genet
Uniparental paternal isodisomy in a genetic cancer-predisposing syndrome
Nature
Cited by (47)
The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes
2022, Human Genetics and Genomics AdvancesCitation Excerpt :sSRCs as the rescue resultant of RCs were seen more frequently in chromosomes X and Y and large autosomes.36 Loss of the RC followed by monosomy compensatory for a mosaic pattern consisting of RC and normal karyotype has been observed in patients of RC 21 and RC 8; this mechanism resulted in uniparental isodisomy of the normal chromosome.71,72 Molecular analysis should be introduced to differentiate cells with isodisomy due to monosomy compensatory in dynamic mosaicism from cells with heterodisomy of true mosaicism.
Complete monosomy mosaic of chromosome 21: Case report and review of literature
2012, GeneCitation Excerpt :The presence of a low proportion of other chromosome cell lines in lymphocytes was surprising but we consider that it was a consequence of an in vitro phenomenon or sensibility of the FISH analysis. Moreover, “compensatory isodisomy” has been recognized as a chromosomal mechanism of postzygotic correction of cell lines that presented del(21q) or r(21); the abnormal cell lines were eliminated, with subsequent duplication of chromosome 21 (Bartsch et al., 1994; Petersen et al., 1992). Following this mechanism, a possibility was that our propositus lost a chromosome 21 in meiosis and by compensatory isodisomy in early mitosis recovered a normal cell line.
Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism
2006, European Journal of Medical GeneticsCitation Excerpt :This rare case of ring chromosome 8 mosaicism gives an example of rescue of monosomy 8 by chromosome duplication, causing “compensatory” uniparental disomy. A similar phenomenon was seen in a patient born with 46,XX,r(21), where the lymphocyte karyotype was almost normalised at the age of 30 months [9,10]. This was probably due to selection against cells with r(21) or monosomy 21 in rapidly dividing tissues [10].
Folate deficiency induces aneuploidy in human lymphocytes in vitro - Evidence using cytokinesis-blocked cells and probes specific for chromosomes 17 and 21
2004, Mutation Research - Fundamental and Molecular Mechanisms of MutagenesisCell-cycle kinetics of cell lines from patients with chromosomal mosaicism
2001, Annales de GenetiqueCitation Excerpt :This effect might be attributable to a selective advantage in the proliferation rate of normal cells when compared with cells presenting a chromosome abnormality, as it has already been suggested 〚6〛. Data have also suggested in vitro selection, with normal cell lines having a selective advantage over abnormal ones 〚8, 23, 24, 28〛. There are few reports comparing cell-cycle kinetic differences not between cells from normal individuals and from patients with aneuploidies, but differences between the normal and aneuploid cell lines within a mosaic patient.
Early onset of gastric carcinoma and constitutional deletion of 18p
1999, Cancer Genetics and Cytogenetics