某一染色体的部分重复或缺失,让我们有机会观察到获得或丢失某些特殊遗传物质后的表现型。运用分子细胞遗传学分析,于产前诊断1例父源性的减数分裂重组后导致7p22远端丢失和7q31.3-qter的重复。因为娩下一活婴,故可以结合产前的超声检查和产后的临床表现来明确细胞遗传学的异常。 孕妇30岁,白种人,孕2产1。孕20周时当地B超怀疑胎儿脊椎畸形就诊。B超发现胎儿L_2、L_3水平呈半脊椎畸形,颈部皮肤折 A partial duplication or deletion of a chromosome gives us the opportunity to observe phenotypes after acquiring or losing certain special genetic material. Using molecular cytogenetic analysis, one case of paternal meiotic recombination was diagnosed prenatal result in 7p22 distal loss and 7q31.3-qter duplication. Because give birth to a living baby, it can be combined with prenatal ultrasound and postpartum clinical manifestations to clear cytogenetic abnormalities. Pregnant women 30 years old, Caucasian, pregnant 2 produce 1. 20 weeks pregnant when the local B-suspected fetal spine malformation treatment. B-found fetus L_2, L_3 level was half-spine deformity, neck skin fold