PMID- 9531344
OWN - NLM
STAT- MEDLINE
DCOM- 19980504
LR  - 20190705
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 100
IP  - 4
DP  - 1998 Mar
TI  - A de novo translocation 46,X,t(X;15) causing haemophilia B in a girl: a case 
      report.
PG  - 750-7
AB  - 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.
FAU - Schroder, W
AU  - Schroder W
AD  - Ernst-Moritz-Arndt University, Institute for Human Genetics, Greifswald, Germany.
FAU - Poetsch, M
AU  - Poetsch M
FAU - Gazda, H
AU  - Gazda H
FAU - Werner, W
AU  - Werner W
FAU - Reichelt, T
AU  - Reichelt T
FAU - Knoll, W
AU  - Knoll W
FAU - Rokicka-Milewska, R
AU  - Rokicka-Milewska R
FAU - Zieleniewska, B
AU  - Zieleniewska B
FAU - Herrmann, F H
AU  - Herrmann FH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
RN  - 9001-28-9 (Factor IX)
SB  - IM
MH  - Adult
MH  - Blood Coagulation
MH  - Blotting, Southern
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Dosage Compensation, Genetic
MH  - Exons
MH  - Factor IX/genetics
MH  - Female
MH  - Hemophilia B/blood/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pedigree
MH  - *Translocation, Genetic
MH  - X Chromosome/*genetics
EDAT- 1998/04/08 00:00
MHDA- 1998/04/08 00:01
CRDT- 1998/04/08 00:00
PHST- 1998/04/08 00:00 [pubmed]
PHST- 1998/04/08 00:01 [medline]
PHST- 1998/04/08 00:00 [entrez]
AID - 10.1046/j.1365-2141.1998.00621.x [doi]
PST - ppublish
SO  - Br J Haematol. 1998 Mar;100(4):750-7. doi: 10.1046/j.1365-2141.1998.00621.x.