McConnell T S, Kornfeld M, McClellan G, Aase J
Hum Pathol. 1980 Mar;11(2):202-5. doi: 10.1016/s0046-8177(80)80146-8.
Clinical, cytogenetic, and autopsy findings are presented in the case of a liveborn female with multiple congenital anomalies mimicking trisomy 18 phenotype, but with partial deletion of the long arms of chromosome 2, region 2, bands 3 and 4.
本文报告了一例活产女婴的临床、细胞遗传学和尸检结果。该女婴有多种先天性异常,酷似18三体综合征的表型,但2号染色体长臂2区3带和4带存在部分缺失。