Orye E, Van Bever H, Desimpel H
Ann Genet. 1983;26(4):238-9.
An elongated long arm of chromosome 14 was found in a male child. GTG-banding analysis indicated a tandem duplication (q24 leads to q32). The child showed several congenital anomalies in common with the ten cases of distal trisomy 14q, known at present.
在一名男童中发现了一条延长的14号染色体长臂。GTG显带分析表明存在串联重复(q24至q32)。该患儿表现出与目前已知的10例14q远端三体病例共有的几种先天性异常。