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 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.
Gilgenkrantz
S
S
Briquel
M E
ME
Mandel
J L
JL
Oberle
I
I
D000293:Adolescent; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D004247:DNA / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006467:Hemophilia A / Q000150:complications / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D010375:Pedigree; D011110:Polymorphism, Genetic; D012303:Ring Chromosomes; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics; D014960:X Chromosome
D005819:Genetic Markers; D004247:DNA