Lu J H, Chung M Y, Hwang B, Chien H P
Department of Pediatrics, Veterans General Hospital-Taipei, National Yang-Ming University, Taipei, Taiwan, Republic of China.
Pediatr Cardiol. 2001 May-Jun;22(3):260-3. doi: 10.1007/s002460010219.
Monozygotic twins with chromosome 22q11 microdeletions offer an ideal situation to observe the association of microdeletion and disrupted cardiovascular patterning. We report monozygotic twins concordant for 22q11.2 microdeletion but discordant for cardiovascular patterning. Both twins showed identical intracardiac defects including tetralogy of Fallot with pulmonary atresia. Nevertheless, their great vessel patternings were variable. These twins show that the mispatterning of the great vessels may not correlate with intracardiac morphogenesis. The discordant development of the great vessels, especially in the pulmonary vascular system, has clinical significance for prognosis. The phenotypic variability of cardiovascular anomalies seen in 22q11 microdeletion cannot be explained on the basis of genotypic difference.
患有22q11染色体微缺失的单卵双胞胎为观察微缺失与心血管模式破坏之间的关联提供了理想条件。我们报告了一对单卵双胞胎，他们22q11.2微缺失情况一致，但心血管模式不同。这对双胞胎均表现出相同的心脏内缺陷，包括法洛四联症合并肺动脉闭锁。然而，他们的大血管模式却各不相同。这些双胞胎表明，大血管的模式异常可能与心脏内形态发生无关。大血管发育不一致，尤其是在肺血管系统中，对预后具有临床意义。在22q11微缺失中观察到的心血管异常的表型变异性无法基于基因型差异来解释。
