Nature. 1991 Jun 20;351(6328):665-7.

Uniparental paternal disomy in a genetic cancer-predisposing syndrome.

Henry I, Bonaiti-Pellié C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C.

Source

INSERM U73, Génétique et Pathologie Foetale, Château de Longchamp, Paris, France.

Abstract

The 11p15.5 region of human chromosome 11 seems to contain a locus or loci involved in congenital overgrowth anomalies as well as in the genesis of many tumours associated with the Beckwith-Wiedemann syndrome (BWS). Given the unusual differential parental allele involvement in the different aetiological forms of BWS and the loss of maternal alleles in associated tumours, we have now used 11p15.5 markers to determine the parental origin of chromosome 11 in eight sporadic cases of BWS. Probands in three informative families had uniparental paternal disomy for region 11p15.5. Further, an overall greatly increased frequency of homozygosity for several 11p15.5 markers in 21 sporadic BWS patients suggests that isodisomy probably accounts for an even higher proportion of BWS sporadic cases. This demonstrates that uniparental paternal disomy can be associated with a genetic cancer-predisposing syndrome.

Comment in

Nature. 1991 Jun 20;351(6328):609-10.

PMID:: 1675767; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Supplemental Content

Save items

Related citations in PubMed

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. [J Med Genet. 1994]
Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER. J Med Genet. 1994 Oct; 31(10):749-53.
Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome. [Hum Mol Genet. 1994]
Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.
Reik W, Brown KW, Slatter RE, Sartori P, Elliott M, Maher ER. Hum Mol Genet. 1994 Aug; 3(8):1297-301.
Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome. [Am J Med Genet. 1994]
Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome.
Kubota T, Saitoh S, Matsumoto T, Narahara K, Fukushima Y, Jinno Y, Niikawa N. Am J Med Genet. 1994 Feb 15; 49(4):378-83.
Review Molecular biology of Beckwith-Wiedemann syndrome. [Med Pediatr Oncol. 1996]
Review Molecular biology of Beckwith-Wiedemann syndrome.
Weksberg R, Squire JA. Med Pediatr Oncol. 1996 Nov; 27(5):462-9.
Review Beckwith-Wiedemann syndrome. [Am J Med Genet C Semin Med Gen...]
Review Beckwith-Wiedemann syndrome.
Choufani S, Shuman C, Weksberg R. Am J Med Genet C Semin Med Genet. 2010 Aug 15; 154C(3):343-54.

See reviews... See all...

Cited by 54 PubMed Central articles

Integrative genomic analysis reveals extended germline homozygosity with lung cancer risk in the PLCO cohort. [PLoS One. 2012]
Integrative genomic analysis reveals extended germline homozygosity with lung cancer risk in the PLCO cohort.
Orloff MS, Zhang L, Bebek G, Eng C. PLoS One. 2012; 7(2):e31975. Epub 2012 Feb 27.
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques. [Eur J Hum Genet. 2011]
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, et al. Eur J Hum Genet. 2011 Apr; 19(4):416-21. Epub 2011 Jan 19.
Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations. [Eur J Hum Genet. 2010]
Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations.
Enciso-Mora V, Hosking FJ, Houlston RS. Eur J Hum Genet. 2010 Aug; 18(8):909-14. Epub 2010 Apr 21.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Uniparental paternal disomy in a genetic cancer-predisposing syndrome.
Uniparental paternal disomy in a genetic cancer-predisposing syndrome.
Nature. 1991 Jun 20 ;351(6328):665-7.

PubMed
A scan for signatures of positive selection in candidate loci for skin pigmentat...
A scan for signatures of positive selection in candidate loci for skin pigmentation in humans.
Mol Biol Evol. 2006 Sep ;23(9):1697-706. Epub 2006 Jun 6 .

PubMed
Genetic exchange in Trypanosoma brucei brucei: variable chromosomal location of ...
Genetic exchange in Trypanosoma brucei brucei: variable chromosomal location of housekeeping genes in different trypanosome stocks.
Mol Biochem Parasitol. 1991 Mar ;45(1):77-89.

PubMed
Coronavirus HKU1 and other coronavirus infections in Hong Kong.
Coronavirus HKU1 and other coronavirus infections in Hong Kong.
J Clin Microbiol. 2006 Jun ;44(6):2063-71.

PubMed
Computational disease gene identification: a concert of methods prioritizes type...
Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes.
Nucleic Acids Res. 2006 Jun 6 ;34(10):3067-81. Print 2006 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: