PMID: 9531344Apr 8, 1998Paper

A de novo translocation 46,X,t(X;15) causing haemophilia B in a girl: a case report

British Journal of Haematology
W SchröderF H Herrmann

Abstract

Haemophilia B is an X-linked recessive bleeding disorder caused by mutations in the factor IX gene with an incidence of 1:25000-30000. Usually female carriers are clinically normal, and severe phenotypic expression of the disease in females is extremely rare. In this report we describe a girl with a clinically severe course of haemophilia B who had no signs of Turner syndrome or any other dysmorphic features. Cytogenetic and molecular studies in the patient and her parents showed a de novo translocation 46,X,t(X;15)(q27.1;p11.2) in the patient, indicating a possible break near the factor IX gene. The structurally normal X chromosome was late replicating and inactivated in all metaphases as shown by high-resolution R-banding. By fluorescence in situ hybridization (FISH) with YAC and cosmid probes we could further characterize the breakpoint region on the X chromosome and the involvement of the factor IX gene.

References

Jan 1, 1976·Progress in Neurobiology·N Klemm
Oct 1, 1978·The American Journal of Medicine·J M Lusher, C W McMillan
Sep 1, 1979·British Journal of Haematology·P G MoriS Scarabicchi
Jan 1, 1976·Advances in Human Genetics·S M Gartler, R J Andina
Jan 1, 1992·Annual Review of Genetics·M F Lyon
Mar 1, 1992·Cancer Genetics and Cytogenetics·N B Atkin, M C Baker
Apr 1, 1987·Human Genetics·L MulliganB N White
Jun 1, 1988·Journal of Medical Genetics·W Werner, A W Spiegler
Feb 1, 1986·Human Genetics·A Smith, S Einfeld
Aug 25, 1971·Nature: New Biology·M F Lyon
Apr 1, 1994·Current Opinion in Genetics & Development·G H Karpen
Jan 1, 1993·Clinical Genetics·C WadeliusM Anvret
Nov 1, 1995·Cancer Genetics and Cytogenetics·K KaltoftK Thestrup-Pedersen
Mar 1, 1996·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·M PoetschB Schlegelberger
Jan 1, 1995·Human Mutation·K WulffF H Herrmann

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Citations

May 31, 2001·British Journal of Haematology·A C Krepischi-SantosA M Vianna-Morgante
Dec 4, 2013·Hämostaseologie·B PezeshkpoorO El-Maarri
Mar 24, 2009·Journal of Thrombosis and Haemostasis : JTH·A PavlovaJ Oldenburg
Jun 11, 2008·Haemophilia : the Official Journal of the World Federation of Hemophilia·K OkumuraT Kojima
Oct 3, 2019·Haemophilia : the Official Journal of the World Federation of Hemophilia·Szymon JanczarWojciech Mlynarski
Dec 15, 2020·Haemophilia : the Official Journal of the World Federation of Hemophilia·Connie H Miller, Christopher J Bean

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