Horváth M, Tímár L, Karcagi V, Czeizel E
Országos Közegészségügyi Intézet, Humángenetikai és Teratológiai Osztály--WHO "Orökletes Artalmak Társadalmi Megelözése". Együttmüködési Központ, Budapest.
Orv Hetil. 1997 Mar 2;138(9):541-5.
The female consultant had two mentally retarded boys from her two marriages. The clinical symptoms and Fra-X chromosomes indicated their Martin-Bell disease. The daughter of the consultant is healthy and Fra-X negative. She is pregnant and insisted on her molecular genetic diagnosis due to an international collaboration. Both affected brothers had FRAXA genes with a full mutation including more than 200 CGG methylated repeats. The consultant female was in the phase of premutation, however, her healthy daughter had two normal 50% methylated genes with 19 and 26 CGG repeats. Thus there is no recurrence risk for Martin-Bell disease in her fetus.
这位女性顾问在两段婚姻中育有两个智力发育迟缓的男孩。临床症状和脆性X染色体表明他们患有马丁-贝尔综合征。这位顾问的女儿身体健康且脆性X染色体检测为阴性。她怀孕了，由于一项国际合作项目，她坚持要进行分子遗传学诊断。两个患病的兄弟都有FRAXA基因的完全突变，包括200多个甲基化的CGG重复序列。这位顾问女性处于前突变阶段，然而，她健康的女儿有两个正常的50%甲基化基因，分别有19个和26个CGG重复序列。因此，她腹中胎儿患马丁-贝尔综合征没有复发风险。
