-transparent.png){kind=logo}
Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner's syndrome. 2012
Department of Haematology, Women's and Children's Hospital, North Adelaide, South Australia, Australia. vaughan.williams@health.sa.gov.au
A 2-year-old girl presented to casualty with a right knee effusion after apparently minor trauma. Inflicted injury was suspected and full forensic coagulation studies were performed which revealed a mild deficiency of factor VIII. Screening of the exons and intron/exon boundaries of F8 gene indicated that the child appeared to be homozygous for the missense mutation c.5123G>A (p.Arg1708His) in exon 14 of the F8 gene. This mutation has been reported to be associated with mild haemophilia A. The possibility of hemizygosity had been masked by the test kit employed but referral to the genetics service and subsequent array CGH resulted in a diagnosis of Turner syndrome.
Related Publications
V K Williams, and
R Suppiah, and
B Coppin, and
C M Nicholls, and
A Simsek, and
L K McGregor
January 1995,
British dental journal,
V K Williams, and
R Suppiah, and
B Coppin, and
C M Nicholls, and
A Simsek, and
L K McGregor
May 1976,
Wiadomosci lekarskie (Warsaw, Poland : 1960),
V K Williams, and
R Suppiah, and
B Coppin, and
C M Nicholls, and
A Simsek, and
L K McGregor
April 1964,
Pediatria polska,
V K Williams, and
R Suppiah, and
B Coppin, and
C M Nicholls, and
A Simsek, and
L K McGregor
November 1972,
Acta paediatrica Scandinavica,
V K Williams, and
R Suppiah, and
B Coppin, and
C M Nicholls, and
A Simsek, and
L K McGregor
March 1965,
Journal of medical genetics,
V K Williams, and
R Suppiah, and
B Coppin, and
C M Nicholls, and
A Simsek, and
L K McGregor
January 2001,
North Carolina medical journal,
V K Williams, and
R Suppiah, and
B Coppin, and
C M Nicholls, and
A Simsek, and
L K McGregor
January 1981,
Urologic radiology,
V K Williams, and
R Suppiah, and
B Coppin, and
C M Nicholls, and
A Simsek, and
L K McGregor
January 1977,
Human heredity,
V K Williams, and
R Suppiah, and
B Coppin, and
C M Nicholls, and
A Simsek, and
L K McGregor
December 1967,
Polski tygodnik lekarski (Warsaw, Poland : 1960),
V K Williams, and
R Suppiah, and
B Coppin, and
C M Nicholls, and
A Simsek, and
L K McGregor
January 1997,
Clinical and experimental rheumatology,
