Abstract
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 patient’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.
Original language | English |
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Pages (from-to) | 241-242 |
Number of pages | 2 |
Journal | Cytogenetic and Genome Research |
Volume | 59 |
Issue number | 4 |
DOIs | |
Publication status | Published - 1992 |
ASJC Scopus subject areas
- Genetics
- Molecular Biology
- Genetics(clinical)
- Cell Biology