Plaisancie H, Bourrouillou G, Calvas P, Colombies P
Service de Génétique Médicale, Toulouse.
J Genet Hum. 1989 Jun;37(2):149-53.
In order to give a genetic counsel to the mother and the two twin-sisters of an Hemophilia A boy, a familial investigation has been carried out. The study with the restriction fragment length polymorphism probes together with the hemostasis screening enabled to specify the status of each member of the family with respect to hemophilia A gene. This investigation evidenced the presence of two maternal alleles and one paternal allele in one of the twin-sisters. This led us to assume that she had a chromosomal abnormality in spite of her normal phenotype. The 47, XX, +(X) result of her karyotype confirmed this assumption. Therefore an accurate genetic counsel was provided to the members of this family and more particularly to the triple X subject.
为了给一名甲型血友病男孩的母亲和两名孪生姐妹提供遗传咨询，开展了一项家族调查。使用限制性片段长度多态性探针进行的研究以及止血筛查，能够明确该家族每个成员与甲型血友病基因相关的状况。这项调查证明，其中一名孪生姐妹存在两个母系等位基因和一个父系等位基因。这使我们推测，尽管她的表型正常，但存在染色体异常。她的核型结果为47, XX, +(X)，证实了这一推测。因此，为该家族成员，尤其是这位XXX个体提供了准确的遗传咨询。
