Mortimer J G, Chewings W, Miethke P, Smith G F
Hum Hered. 1978;28(2):132-40. doi: 10.1159/000152953.
Chromosome studies on a newborn infant with the clinical features of 4p-syndrome revealed a 46,XY,4p-karyotype with deletion of bands distal to 4p14. Investigation of the family revealed normal chromosomes in the mother and a balanced translocation rcp(4;12) (p14;p13) in the father, the paternal grandfather and an uncle. A severely retarded and malformed aunt is a partial trismoy for the short arms of chromosome 4, with the unbalanced karyotype 45,XX,12p+. It appears that monosomy of bands 4p15 and 4p16 leads to the full clinical features of 4p-syndrome, while trisomy of this region causes disabilities consistent with the rather more variable 4p trisomy syndrome. From currently reported cases, a summary is presented of the results of pregnancies of both male and female translocation carriers.
对一名具有4p-综合征临床特征的新生儿进行的染色体研究显示，其核型为46,XY,4p-，4p14远端带缺失。对该家庭的调查发现，母亲的染色体正常，父亲、祖父和一位叔叔存在平衡易位rcp(4;12)(p14;p13)。一位严重智力发育迟缓且畸形的姑姑是4号染色体短臂的部分三体，核型不平衡为45,XX,12p+。似乎4p15和4p16带的单体性导致了4p-综合征的全部临床特征，而该区域的三体性则导致了与更为多变的4p三体综合征相符的残疾。根据目前报道的病例，总结了男女易位携带者妊娠的结果。
