Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

doi:10.1182/blood-2002-01-0277

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Article

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

Blood - 15 Oct 2002

Valleix Sophie, Vinciguerra Christine, Lavergne Jean-Maurice, Leuer Marco, Delpech Marc, Negrier Claude

Abstract excerpt

This study describes the genetic mechanisms responsible for the de novo occurrence of severe and mild hemophilia A in monozygotic twin females. Both twins were found to carry a previously known factor VIII mutation (Tyr16Cys) in the heterozygous state which most probably arose in the paternal germ line. Both twins showed concordant skewing of X inactivation toward the maternally derived normal X chromosome, the...

Topics

Amino Acid Substitution
Chromosome Mapping
Chromosomes, Human, X
Factor VIII
Female
Genetic Predisposition to Disease
Hemophilia A
Humans
Male
Mutation
Pedigree
Sex Chromosome Aberrations
Twins, Monozygotic

Source

Open in PubMed

Identifiers

PMID: 12351418
DOI: 10.1182/blood-2002-01-0277

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