Greenberg F, Courtney K B, Wessels R A, Huhta J, Carpenter R J, Rich D C, Ledbetter D H
Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
Am J Med Genet. 1988 Sep;31(1):1-4. doi: 10.1002/ajmg.1320310102.
A fetus, subsequently shown to have the deletion 17p13, was detected at 30 weeks' gestation because of multiple anomalies and polyhydramnios on ultrasonography. The fetus died and was born at 34 weeks of gestation. Pathologic examination showed intrauterine growth retardation, double outlet right ventricle (a conotruncal cardiac defect), and thymic hypoplasia suggesting partial DiGeorge anomaly. To our knowledge, DiGeorge anomaly has not been reported previously in conjunction with del(17p) nor in the Miller-Dieker syndrome. Since this deletion is the largest deletion of distal 17p observed so far, one explanation for this association may be the presence of a gene on proximal 17p for neural crest development.
一名胎儿在孕30周时因超声检查发现多种异常及羊水过多而被检出，随后显示有17p13缺失。该胎儿于孕34周死亡并娩出。病理检查显示宫内生长受限、右心室双出口（一种圆锥动脉干心脏缺陷）以及胸腺发育不全，提示部分迪格奥尔格综合征。据我们所知，此前尚未有迪格奥尔格综合征与17p缺失或米勒 - 迪克尔综合征相关联的报道。由于这种缺失是迄今为止观察到的17号染色体短臂远端最大的缺失，这种关联的一种解释可能是17号染色体短臂近端存在一个与神经嵴发育相关的基因。
