Nakagome Y, Inuma K, Matsui I
J Med Genet. 1973 Jun;10(2):174-6. doi: 10.1136/jmg.10.2.174.
Three translocations each involving C or G chromosomes are reported. A familial translocation t(Cq+; Eq−) was identified to be rcp(6;18) (q2;q1) and two malformed children were then found to have a 46,XY(or XX),−6, +der(6) constitution. One of the carrier's pregnancy in this family was monitored by amniocentesis and a fetus was identified as being a male translocation carrier (balanced). Two other translocations were identified as rcp(11;14) (q12 or 13;q32?) and t(17;22) (p12 or 13?;q11?), respectively.
据报道有三个易位,每个易位都涉及C或G染色体。一个家族性易位t(Cq+;Eq−)被确定为rcp(6;18)(q2;q1),随后发现两个畸形儿童具有46,XY(或XX),−6,+der(6)核型。该家族中一名携带者的妊娠通过羊膜穿刺术进行监测,发现一名胎儿为男性易位携带者(平衡型)。另外两个易位分别被确定为rcp(11;14)(q12或13;q32?)和t(17;22)(p12或13?;q11?)。