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Paternal segmental isodisomy of centromeric region on chromosome 1 as a cause of juvenile hemochromatosis

ABSTRACT: Juvenile hemochromatosis type 2A in the studied patient was caused by a homozygous mutation c.196G>T (p.G66*) in hemojuvelin. Homozygous state for this mutation evolved through interstitial segmental isodisomy encompassing the centromeric region of chromosome 1 accompanying its paternal disomy. The disomy resulted into normal karyotype SNP genotyping was performed on 3 samples - family trio. Affymetrix GeneChip Command Console software was used for image processing and CEL files were processed by Affymetrix GTC using the BRLMM-P-Plus algorithm and regional GC correction configuration for Copy Number/LOH analysis. The HapMap270 file supplied by Affymetrix was used as the reference.

ORGANISM(S): Homo sapiens

SUBMITTER: Viktor Stranecky

PROVIDER: E-GEOD-50441 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Paternal segmental isodisomy of centromeric region on chromosome 1 as a cause of juvenile hemochromatosis

Project description:Juvenile hemochromatosis type 2A in the studied patient was caused by a homozygous mutation c.196G>T (p.G66*) in hemojuvelin. Homozygous state for this mutation evolved through interstitial segmental isodisomy encompassing the centromeric region of chromosome 1 accompanying its paternal disomy. The disomy resulted into normal karyotype

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A novel unusual chromosome 11 abnormality: a homozygous somatic deletion of the entire WT1 gene within a heterozygous 11p13 deletion and UPD limited to 11p15 in a Wilms tumor and establishment of an immortalized cell line

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2016-06-01 | GSE71265 | GEO

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2016-06-01 | E-GEOD-71265 | biostudies-arrayexpress

Integrative Survival-Based Molecular Profiling of Human Pancreatic Cancer

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2011-10-07 | E-GEOD-32688 | biostudies-arrayexpress

Genotyping of human AMP patients using 27 pairs of diagnostic and relapsed AML samples

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Relapse versus diagnostic acute myeloid leukaemia samples analysed using Affymetrix 10K SNP array

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