A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes

A case of female hemophilia with a 46,XXr/45,X karyotype and signs of Turner syndrome, has been followed for the past 10 years. One of her brothers also has hemophilia A. A study with polymorphic DNA probes located in the Xq27-qter region has enabled us to demonstrate that the ring chromosome is of...

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Bibliographic Details
Published inHuman genetics Vol. 72; no. 2; p. 157
Main Authors Gilgenkrantz, S, Briquel, M E, Mandel, J L, Oberle, I
Format Journal Article
LanguageEnglish
Published Germany 01.02.1986
Subjects
Adolescent
Chromosome Aberrations
Chromosome Banding
DNA - genetics
Female
Genetic Markers
Hemophilia A - complications
Hemophilia A - genetics
Humans
Mosaicism
Pedigree
Polymorphism, Genetic
Ring Chromosomes
Turner Syndrome - complications
Turner Syndrome - genetics
X Chromosome
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Summary:A case of female hemophilia with a 46,XXr/45,X karyotype and signs of Turner syndrome, has been followed for the past 10 years. One of her brothers also has hemophilia A. A study with polymorphic DNA probes located in the Xq27-qter region has enabled us to demonstrate that the ring chromosome is of paternal origin and that the factor VIII gene region is deleted. The hemizygous state allowed expression of the hemophilia A mutation, present on the morphologically normal X chromosome, inherited from her carrier mother.
ISSN:0340-6717
DOI:10.1007/BF00283936