HEMOPHILIA-A IN A 46,X,I(XQ) FEMALE

被引：13

作者：

MORI, PG ^{[1
]}

PASINO, M ^{[1
]}

VADALA, CR ^{[1
]}

BISOGNI, MC ^{[1
]}

TONINI, GP ^{[1
]}

SCARABICCHI, S ^{[1
]}

机构：

[1] INST G GASLINI,DEPT INFECT DIS,GENOVA,ITALY

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1979年 / 43卷 / 01期

关键词：

D O I：

10.1111/j.1365-2141.1979.tb03729.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Summary. A phenotypically normal female, with negative family history for bleeding disorders, was found to be affected by severe haemophilia A. All laboratory tests performed confirmed the diagnosis. Chromosome analysis showed the presence of an X isochromosome of the long arm in every cell. It is hypothesized that the propositus inherited the affected X from her mother, a probable carrier, and the isochromosome, of paternal origin, was not able to mask the abnormal gene. Copyright © 1979, Wiley Blackwell. All rights reserved

引用

页码：143 / &

共 25 条

[1] SPONTANEOUS HEMOPHILIA IN A GENOTYPICALLY NORMAL FEMALE - FAMILY STUDY [J].