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 |
|---|---|
| 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
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Panarello, C., Acquila, M., Caprino, D., Gimelli, G., Pecorara, M., & Moril, P. G. (1992). Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52. Cytogenetic and Genome Research, 59(4), 241-242. https://doi.org/10.1159/000133259