由于非随机X染色体失活导致患甲型血友病不一致的女性同卵双胞胎。
Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.
作者信息
Bennett Carolyn M, Boye Eileen, Neufeld Ellis J
机构信息
Division of Hematology/Oncology, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
出版信息
Am J Hematol. 2008 Oct;83(10):778-80. doi: 10.1002/ajh.21219.
Abstract
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.
摘要
我们描述了一对同卵双胞胎女性，她们患血友病A的情况不一致，母亲为携带者，父亲正常。患病的双胞胎A在1岁时出现过度瘀伤，凝血因子VIII促凝活性（FVIII:C）低于正常水平的1%。双胞胎B是无症状携带者，FVIII:C水平为42%。检测了外周血DNA中X连锁人类雄激素受体基因的X染色体失活（甲基化）模式，并将双胞胎的模式与父母的模式进行比较。双胞胎A显示出偏向父本X染色体的非随机失活，而双胞胎B显示出随机X染色体失活。这是首例报道的同卵双胞胎女性血友病A不一致的病例。
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