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- Title
Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion.
- Authors
Hutchins, K.; Rajpurkar, M.; Stockton, D. W.; Callaghan, M. U.
- Abstract
Combined factor VII (FVII) and factor X (FX) deficiency is a rare bleeding disorder that can be easily misdiagnosed as the laboratory findings can mimic congenital FVII deficiency, vitamin K deficiency or disseminated intravascular coagulation. Initial screening FISH results limited to the centromeric region of chromosomes 13, 18, 21, X and Y were normal; however, results from a high-resolution g-banded chromosome analysis were abnormal showing a probable partial duplication of chromosome 13q14-13q33. In this case, the TEG was normal and goes along with both the mild bleeding phenotype in this patient and the mild or asymptomatic phenotype of the patients with combined FVII and FX deficiency reported in the literature.
- Subjects
CHROMOSOME duplication; BLOOD coagulation factor X; URETHRAL obstruction; COOMBS' test
- Publication
Haemophilia, 2021, Vol 27, Issue 1, pe127
- ISSN
1351-8216
- Publication type
Article
- DOI
10.1111/hae.13065