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Christmas Disease (Haemophilia B) in a Girl with Deletion of the Short Arm of One X-Chromosome (Functional Turner Syndrome)


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.

Abstract

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.

Abstract

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.

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Additional indexing

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:23 Jun 2024 03:44
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
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