Funderburk S J, Sparkes R S, Sparkes M C
Ann Genet. 1983;26(2):94-7.
A mentally retarded boy with multiple malformations was found to have trisomy for the distal two-thirds of the short arm of chromosome 20 (trisomy 20p), resulting from a paternal translocation (5;20)(p15;p11). The patient had a cleft palate, a feature not present in other trisomy 20p patients. A review of the reported trisomy 20p patients indicates that their varied features do no constitute a readily recognizable clinical syndrome.
一名患有多种畸形的智力发育迟缓男孩被发现20号染色体短臂远端三分之二三体(20p三体),这是由父亲的(5;20)(p15;p11)易位导致的。该患者有腭裂,这是其他20p三体患者所没有的特征。对已报道的20p三体患者的回顾表明,他们多样的特征并不构成一种易于识别的临床综合征。