Cotter P D, Musci T J
Division of Medical Genetics, Children's Hospital Oakland, 747 52nd Street, Oakland, CA 94609, USA.
Prenat Diagn. 2001 Mar;21(3):171-5.
Interphase fluorescence in situ hybridization (FISH) analysis has become an accepted practice for rapid preliminary analysis of chromosome aneuploidy from direct amniocyte preparations. The use of dual-color interphase FISH analysis with chromosome-specific protelomere probes for the rapid exclusion of chromosomally unbalanced segregants in the pregnancy of a reciprocal translocation carrier is reported. Amniocentesis was performed at 16 weeks gestation on the carrier of a t(5;14)(p14.2;p13), who was ascertained after the birth of a son with the der(5) chromosome. Interphase FISH analysis with probes for 5pter, 5qter and 14qter showed two signals for each, consistent with alternate segregation of the maternal translocation. Subsequent metaphase analysis confirmed a 46,XY,t(5;14)(p14.2;p13)mat karyotype in the fetus. This case illustrates the utility of interphase FISH analysis with protelomere probes for rapid prenatal diagnosis in cases of parental reciprocal translocation.
间期荧光原位杂交（FISH）分析已成为一种公认的方法，用于从直接羊水细胞制备物中快速初步分析染色体非整倍体。本文报道了使用带有染色体特异性端粒探针的双色间期FISH分析，以快速排除相互易位携带者妊娠中染色体不平衡的分离体。对一名携带t(5;14)(p14.2;p13)的携带者在妊娠16周时进行了羊水穿刺，该携带者在其儿子出生后被确定，其儿子带有der(5)染色体。用针对5pter、5qter和14qter的探针进行间期FISH分析，每个探针均显示两个信号，这与母亲易位的交替分离一致。随后的中期分析证实胎儿的核型为46,XY,t(5;14)(p14.2;p13)mat。该病例说明了使用端粒探针进行间期FISH分析在亲代相互易位病例快速产前诊断中的实用性。
