Fryns J P, Deroover J, Haegeman J, Van den Berghe H
Hum Genet. 1979 Mar 12;47(2):217-20. doi: 10.1007/BF00273206.
A 21-year-old mentally retarded female with 10p12 trisomy is reported. She presented a slight craniofacial dysmorphism very similar to that found in the full 10p-trisomy syndrome. Other features usually found in full 10p trisomy, however, such as failure to thrive and internal malformations, were absent.
报道了一名患有10p12三体综合征的21岁智力迟钝女性。她表现出轻微的颅面畸形,与完全型10p三体综合征中发现的畸形非常相似。然而,完全型10p三体综合征中通常出现的其他特征,如生长发育迟缓及内脏畸形,在该患者中并未出现。