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Spinelli, A; Schmid, Werner; Straub, P W (1976). Christmas Disease (Haemophilia B) in a Girl with Deletion of the Short Arm of One X-Chromosome (Functional Turner Syndrome). British Journal of Haematology, 34(1):129-135.
A I-year-old girl with severe Christmas disease and a factor IX content less than 1% of normal is described. The family history was negative and coagulation studies on her relatives were normal. Genetic investigation showed an XXp-karyotype with deletion of the short arm of one X-chromosome, a cytogenetic variant of Turner syndrome. The transmission pathway of the haemophilia gene is discussed.
| Item Type: | Journal Article, refereed, original work |
|---|---|
| Communities & Collections: | 04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics |
| Dewey Decimal Classification: | 570 Life sciences; biology
610 Medicine & health |
| Scopus Subject Areas: | Health Sciences > Hematology |
| Uncontrolled Keywords: | Hematology, Christmas disease, Functional Turner Syndrome |
| Language: | English |
| Date: | 1 September 1976 |
| Deposited On: | 26 Jan 2023 14:10 |
| Last Modified: | 25 Feb 2025 02:43 |
| Publisher: | Wiley-Blackwell Publishing, Inc. |
| ISSN: | 0007-1048 |
| OA Status: | Closed |
| Publisher DOI: | https://doi.org/10.1111/j.1365-2141.1976.tb00181.x |
| PubMed ID: | 952762 |
Spinelli, A