Mattei J F, Mattei M G, Coignet J, Giraud F
J Med Genet. 1978 Apr;15(2):154-7. doi: 10.1136/jmg.15.2.154.
An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.
在一名患有严重脑病和多重畸形综合征的7岁男孩中,通过Q带和R带技术鉴定出一条不平衡的Y常染色体易位t(5;Y)和一条明显平衡的易位t(2;13)。出生时,基于特征性哭声做出的“猫叫综合征”临床诊断,在使用传统染色技术进行核型分析后未得到证实。