A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes

Authors:	Simone Gilgenkrantz Marie-Elisabeth Briquel J. -L. Mandel Isabelle Oberle

Affiliation:	(1) Laboratoire de Cytogénétique, Centre de Transfusion Sanguine de Nancy, Avenue de Bourgogne, F-54511 Vanduvre Les Nancy Cédex, France;(2) Laboratoire d'Hémostase, Centre de Transfusion Sanguine, F-54511 Vanduvre Les Nancy Cédex, France;(3) Unité de Biologie Moléculaire et de Génie Génétique, INSERUM, F-67085 Strasbourg Cédex, France

Abstract:	Summary A case of female hemophilia with a 46,XXr/45,X karyotype and signs of Turner syndrome, has been followed for the past 10 years. One of her brothers also has hemophilia A. A study with polymorphic DNA probes located in the Xq27-qter region has enabled us to demonstrate that the ring chromosome is of paternal origin and that the factor VIII gene region is deleted. The hemizygous state allowed expression of the hemophilia A mutation, present on the morphologically normal X chromosome, inherited from her carrier mother.

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