Chen C P, Liu F F, Jan S W, Yang Y C, Lan C C
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
Prenat Diagn. 1996 Dec;16(12):1137-40. doi: 10.1002/(SICI)1097-0223(199612)16:12<1137::AID-PD979>3.0.CO;2-K.
We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. We demonstrate that the Dandy-Walker malformation can be an associated congenital malformation of supernumerary der(22)t(11;22) syndrome and emphasize the importance of chromosomal analysis and genetic counselling in the obstetric management of prenatally diagnosed Dandy-Walker malformation.
我们报告了首例因家族性11号与22号染色体易位t(11;22)(q23;q11)三代遗传而导致核型为部分11号与22号染色体三体的产前诊断丹迪-沃克畸形病例。我们证明丹迪-沃克畸形可能是额外der(22)t(11;22)综合征的相关先天性畸形，并强调染色体分析和遗传咨询在产前诊断丹迪-沃克畸形产科管理中的重要性。
