Gilgenkrantz S, Blanchet-Bardon C, Nazzaro V, Formiga L, Mujica P, Alembik Y
Centre de Transfusion Sanguine de Nancy-Brabois, Vandoeuvre les Nancy, France.
Hum Genet. 1989 Jan;81(2):120-2. doi: 10.1007/BF00293886.
A family carrying the X-linked gene for hypohidrotic ectodermal dysplasia (hereditary ectodermal polydysplasia or Christ-Siemens-Touraine syndrome) over three generations was monitored for more than 15 years. Two prenatal diagnoses were carried out by fetoscopy on skin biopsies. Polymorphic probes were used in the segregation analysis of the Xq11-21 region carried out on 30 members of the family. Current screening possibilities for the carriers and prenatal diagnosis are discussed.
一个携带X连锁性少汗性外胚层发育不良（遗传性外胚层发育异常或克里斯蒂-西门斯-图雷恩综合征）基因的家族历经三代被监测了超过15年。通过胎儿镜检查对皮肤活检样本进行了两次产前诊断。多态性探针被用于对该家族30名成员进行的Xq11 - 21区域的分离分析。文中讨论了目前针对携带者的筛查可能性及产前诊断方法。
