Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.

doi:10.1136/jmg.2006.046854

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Article

Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.

Journal of medical genetics - 1 Apr 2007

Grati F R, Turolla L, D'Ajello P, Ruggeri A, Miozzo M, Bracalente G, Baldo D, Laurino L, Boldorini R, Frate E, Surico N, Larizza L, Maggi F, Simoni G

Abstract excerpt

BACKGROUND: The phenotypic variability in Beckwith-Wiedemann syndrome (BWS) reflects the genetic heterogeneity of the mechanism which by default leads to the deregulation of genes located at 11p15.5. Genotype-phenotype correlation studies have demonstrated an association between omphalocoele and CDKN1C/p57 mutations or hypermethylation. Paternal uniparental disomy 11 (pUPD11) has been described only in the mosaic...

Topics

Abortion, Eugenic
Adult
Amniocentesis
Amniotic Fluid
Beckwith-Wiedemann Syndrome
Cells, Cultured
Chromosomes, Human, Pair 11
Cohort Studies
Female
Genetic Heterogeneity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genotype

Hernia, Umbilical

Humans

Italy

Karyotyping

Microsatellite Repeats

Phenotype

Pregnancy

Source

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Identifiers

PMID: 17259293
DOI: 10.1136/jmg.2006.046854
PMCID: PMC2598040

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