Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52.
A 46,X,idic(X)(p11) karyotype was found in a female affected by Turner syndrome and sporadic moderate hemophilia A. Restriction fragment length polymorphism analysis of the patients's DNA demonstrated that the idic(X) contained alleles from both maternal X chromosomes. Since the idic(X) appeared to be always inactivated, a de novo mutation of factor VIII in the normal paternal X chromosome is probably responsible for the patient's coagulation disorder.
Panarello
C
C
Laboratorio di Ematologia Pediatrica, Istituto G. Gaslini, Genova, Italy.
Acquila
M
M
Caprino
D
D
Gimelli
G
G
Pecorara
M
M
Mori
P G
PG
D000293:Adolescent; D015139:Blotting, Southern; D002869:Chromosome Aberrations; D005260:Female; D006467:Hemophilia A / Q000150:complications / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*; D014960:X Chromosome