Br J Haematol. 1976 Sep;34(1):129-35.

Christmas disease (haemophilia B) in a girl with deletion of the short arm of one X-chromosome (functional Turner syndrome).

Abstract

A I-year-old girl with severe Christmas disease and a factor IX content less than I% 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.

PMID:: 952762; [PubMed - indexed for MEDLINE]

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Short arm deletion of an X chromosome, 46,XXp-. [Hum Genet. 1976]
Short arm deletion of an X chromosome, 46,XXp-.
Kaiser P, Zabel B, Hansen S, Daume E. Hum Genet. 1976 Apr 15; 32(1):89-100.
Turner syndrome with rare karyotypes. [Clin Genet. 1978]
Turner syndrome with rare karyotypes.
Boczkowski K, Mikkelsen M, Poulsen H. Clin Genet. 1978 May; 13(5):409-14.
Hemophilia B in a phenotypically normal girl with XX (ring) XO mosaicism. [Acta Haematol. 1973]
Hemophilia B in a phenotypically normal girl with XX (ring) XO mosaicism.
Neuschatz J, Necheles TF. Acta Haematol. 1973; 49(2):108-13.
Review [A second case of (de novo) paracentric inversion of the short arm of the X chromosome]. [Ann Genet. 1990]
Review [A second case of (de novo) paracentric inversion of the short arm of the X chromosome].
Dahoun S. Ann Genet. 1990; 33(1):52-5.
Review [Turner's syndrome--correlation between karyotype and phenotype]. [Endokrynol Pol. 2005]
Review [Turner's syndrome--correlation between karyotype and phenotype].
Lacka K. Endokrynol Pol. 2005 Nov-Dec; 56(6):986-93.

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Cited by 1 PubMed Central article

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). [Proc Natl Acad Sci U S A. 1991]
Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).
Taylor SA, Deugau KV, Lillicrap DP. Proc Natl Acad Sci U S A. 1991 Jan 1; 88(1):39-42.

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Christmas disease (haemophilia B) in a girl with deletion of the short arm of one X-chromosome (functional Turner syndrome).

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