Chow L Y, Waye M M, Garcia-Barcelo M, Chiu H F, Fung K P, Lee C Y
Department of Psychiatry, Chinese University of Hong Kong.
J Intellect Disabil Res. 1998 Apr;42 ( Pt 2):184-8. doi: 10.1046/j.1365-2788.1998.00109.x.
A man with intellectual disability presented with schizophrenia, hypocalcaemia, facial dysmorphism and cleft soft palate. Velo-cardio-facial syndrome was diagnosed and deletion at 22q11 was confirmed by fluorescent in situ hybridization.
一名患有智力障碍的男子出现了精神分裂症、低钙血症、面部畸形和软腭裂。诊断为腭心面综合征,荧光原位杂交证实22q11存在缺失。