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Article

Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

American journal of hematology - 1 Oct 2008

Bennett Carolyn M, Boye Eileen, Neufeld Ellis J

Abstract excerpt

We describe monozygotic female twins discordant for hemophilia A, born to a carrier mother and normal father. Affected twin A presented at age 1 year with excessive bruising and factor VIII procoagulant activity (FVIII:C) of less than 1% of normal. Twin B is an asymptomatic carrier with FVIII:C level of 42%. Peripheral blood DNA was tested for X-chromosome inactivation (methylation) patterns of the X-linked human...

Topics

DNA Mutational Analysis
Diseases in Twins
Dosage Compensation, Genetic
Factor VIII
Female
Genetic Linkage
Genetic Markers
Hemophilia A
Humans
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Twins, Monozygotic

X Chromosome Inactivation

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Identifiers

PMID: 18645989
DOI: 10.1002/ajh.21219
PMCID: PMC5715470

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