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

作者信息

Spinelli A, Schmid W, Straub P W

出版信息

Br J Haematol. 1976 Sep;34(1):129-35. doi: 10.1111/j.1365-2141.1976.tb00181.x.

DOI:10.1111/j.1365-2141.1976.tb00181.x
PMID:952762
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.

摘要

相似文献

1
Christmas disease (haemophilia B) in a girl with deletion of the short arm of one X-chromosome (functional Turner syndrome).
Br J Haematol. 1976 Sep;34(1):129-35. doi: 10.1111/j.1365-2141.1976.tb00181.x.
2
Short arm deletion of an X chromosome, 46,XXp-.X染色体短臂缺失，46，XXp-
Hum Genet. 1976 Apr 15;32(1):89-100. doi: 10.1007/BF00569982.
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[2 cases of structural anomalies of X chromosome with a 46,XXp karyotype].
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Hemophilia B in a phenotypically normal girl with XX (ring) XO mosaicism.
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X short-arm deletion gonadal dysgenesis in two sibs.两例同胞患X染色体短臂缺失性腺发育不全
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X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+).由于独特的易位（Xp-;16p+）导致两名同胞出现X短臂缺失性腺发育不全。
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Variant of factor IX deficiency in female with 45, X Turner's syndrome.
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Turner syndrome resulting from partial deletion of Y chromosome short arm: localization of male determinants.因Y染色体短臂部分缺失导致的特纳综合征：男性决定因素的定位
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