Valcárcel E, Benítez J, Martínez P, Rey J A, Sánchez Cascos A
Hum Genet. 1983;63(1):78-81. doi: 10.1007/BF00285405.
We present a family, identified through a girl with "Cri-du-chat syndrome", in which two different types of recombinants exist [del(5)(qter leads to p14:) and dup(5)(p13)]. They are due to a 5p paracentric inversion of maternal origin [inv(5)(pter p13)]. We discuss the relationship between the breakpoints and segregation of the inversion carrier, as well as the origin and the identification of the recombinants.
我们展示了一个通过患有“猫叫综合征”的女孩鉴定出的家系,其中存在两种不同类型的重组体[del(5)(qter→p14:)和dup(5)(p13)]。它们是由母源的5号染色体臂间倒位[inv(5)(pter p13)]导致的。我们讨论了倒位携带者的断点与分离之间的关系,以及重组体的起源和鉴定。