Wahlström J
Department of Clinical Genetics, University of Göteborg, Sweden.
Brain Dev. 1987;9(5):466-8. doi: 10.1016/s0387-7604(87)80065-7.
The Rett syndrome is exclusively found in girls. Considerable interest has been focused on a possible genetic background. The evidence for such an etiology is not conclusive and the findings in support of such a hypothesis are given. The few twin data and family data together with the chromosomal investigation indicate an X-linked inheritance. The recurrence risk in a family with one Rett girl is about 0.3%. Prenatal diagnosis is not recommended for the time being, as the only diagnosis, possible is prenatal sexing and most girls are healthy as the recurrence risk is low.
瑞特综合征仅见于女孩。人们对其可能的遗传背景给予了相当大的关注。这种病因学的证据并不确凿，文中给出了支持这一假说的研究结果。为数不多的双胞胎数据、家族数据以及染色体研究表明其为X连锁遗传。一个家庭中有一个患瑞特综合征女孩时，再次发病的风险约为0.3%。目前不建议进行产前诊断，因为唯一可能的诊断是产前性别鉴定，而且由于复发风险较低，大多数女孩是健康的。
