Shen-Schwarz S, Hill L M, Surti U, Marchese S
Department of Pathology, Magee-Womens Hospital, Pittsburgh, Pennsylvania.
Am J Med Genet. 1989 Jan;32(1):81-6. doi: 10.1002/ajmg.1320320117.
We present the necropsy findings of a 21-week-gestation male fetus with deletion of the terminal portion of long arm of chromosome 6 [46,XY,del(6)(q23----qter)]. Major anomalies include intrauterine growth retardation, facial anomalies, nuchal cyst, scoliosis, bilateral diaphragmatic hernias, persistent common atrioventricular canal, absent olfactory bulbs and agenesis of corpus callosum. In aberrations of chromosome 6q, patients usually have psychomotor retardation, somatic growth failure, and facial anomalies; nuchal cyst and bilateral diaphragmatic hernias have not yet been described.
我们展示了一名妊娠21周男性胎儿的尸检结果，该胎儿存在6号染色体长臂末端缺失[46,XY,del(6)(q23----qter)]。主要异常包括宫内生长迟缓、面部异常、颈部囊肿、脊柱侧弯、双侧膈疝、持续性共同房室通道、嗅球缺如和胼胝体发育不全。在6q染色体畸变中，患者通常有精神运动发育迟缓、身体生长发育不良和面部异常；颈部囊肿和双侧膈疝尚未见报道。
