Schinzel A
Am J Med Genet. 1984 May;18(1):153-61. doi: 10.1002/ajmg.1320180119.
This is a report of a family with a balanced reciprocal translocation, rcp (1;7)(q32;q34). Among pregnancies from translocation carriers, there were several miscarriages, and two unbalanced offspring with dup(1q32----qter) and del (7q34----qter) who died perinatally. One was a male cyclops with additional brain malformations and hydronephrosis, the other was a cebocephalic female with multiple additional malformations of heart, kidneys, and skeleton. In both pregnancies, the brain and renal anomalies were detected prenatally by ultrasound, in the cyclops during the 32nd and in the cebocephalic fetus during the 28th week of gestation.
这是一份关于一个患有平衡相互易位rcp(1;7)(q32;q34)的家庭的报告。在易位携带者的妊娠中,有多次流产,还有两个不平衡的后代,分别为dup(1q32----qter)和del(7q34----qter),均在围产期死亡。一个是患有额外脑部畸形和肾积水的独眼男性,另一个是患有心脏、肾脏和骨骼多处额外畸形的无脑女婴。在这两次妊娠中,脑部和肾脏异常均在产前通过超声检测到,独眼胎儿在妊娠第32周时检测到,无脑女胎在妊娠第28周时检测到。