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A de novo translocation 46,X,t(X;15) causing haemophilia B in a girl: a case report
Author(s) -
Christoph Schröder,
Poetsch,
Gazda,
V. Werner,
Reichelt,
Rokicka-Milewska,
Zieleniewska,
Martin Herrmann
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.00621.x
Subject(s) - chromosomal translocation , breakpoint , haemophilia b , haemophilia a , fluorescence in situ hybridization , cosmid , x chromosome , factor ix , haemophilia , biology , microbiology and biotechnology , genetics , karyotype , cytogenetics , girl , gene , chromosome
Haemophilia B is an X‐linked recessive bleeding disorder caused by mutations in the factor IX gene with an incidence of 1:25 000–30 000. 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.