Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation

被引：29

作者：

Bennett, Carolyn M. ^{[1
,2
,3
]}

Boye, Eileen ^{[4
]}

Neufeld, Ellis J. ^{[1
,2
,3
]}

机构：

[1] Childrens Hosp, Div Hematol, Div Hematol Oncol, Boston, MA 02115 USA

[2] Dana Farber Canc Inst, Div Pediat Hematol Oncol, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA

[4] Harvard Univ, Sch Dent Med, Dept Dev Biol, Boston, MA 02115 USA

来源：

AMERICAN JOURNAL OF HEMATOLOGY | 2008年 / 83卷 / 10期

关键词：

D O I：

10.1002/ajh.21219

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe monozygotic female twins discordant for hemophilia A, born to a carrier mother and normal father. Affected twin A presented at age 1 year with excessive bruising and factor VIII procoagulant activity (FVIII:C) of less than 1% of normal. Twin B is an asymptomatic carrier with FVIII:C level of 42%. Peripheral blood DNA was tested for X-chromosome inactivation (methylation) patterns of the X-linked human androgen receptor gene, comparing the twins' patterns to parental. Twin A showed nonrandom inactivation skewed toward the paternal X, whereas twin B showed random X-inactivation. This is the first reported case of discordance for hemophilia A between female monozygotic twins.

引用

页码：778 / 780

页数：3

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