Motzkin B, Marion R, Goldberg R, Shprintzen R, Saenger P
Department of Pediatrics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York 10467.
J Pediatr. 1993 Sep;123(3):406-10. doi: 10.1016/s0022-3476(05)81740-8.
Velocardiofacial syndrome (VCF) has overlapping features with DiGeorge sequence; both result from a developmental field defect and probably represent contiguous gene deletion syndromes. The association of chromosome 22q11 deletion with DiGeorge sequence led us to do molecular analysis of chromosome 22 in 18 patients with VCF, who ranged in age from 6 to 42 years. All 18 patients had monosomy for the chromosome region 22q11. Retrospectively, we correlated the presence of the deletion with various clinical findings: 100% had cleft palate, 67% the facial phenotype, 83% cardiac disease, 94% learning disabilities, 70% ophthalmologic findings, 50% short stature, 22% psychiatric disorders, and 17% hypocalcemia. Both severely phenotypically affected and mildly affected patients had the deletion. These findings stress the importance of continued surveillance of all patients with VCF for the many medical problems that may not be present at initial diagnosis. We conclude that the presence of the gene deletion does not predict the phenotypic expression in VCF. Further studies to characterize the size of the gene deletion may facilitate better prediction of the phenotype.
腭心面综合征（VCF）与迪格奥尔格综合征有重叠特征；两者均由发育场缺陷导致，可能代表相邻基因缺失综合征。22q11染色体缺失与迪格奥尔格综合征的关联促使我们对18例年龄在6至42岁之间的VCF患者进行22号染色体的分子分析。所有18例患者均存在22q11染色体区域单体性。回顾性地，我们将缺失的存在与各种临床发现进行了关联：100%有腭裂，67%有面部表型，83%有心脏病，94%有学习障碍，70%有眼科发现，50%身材矮小，22%有精神障碍，17%有低钙血症。表型严重受影响和轻度受影响的患者均有该缺失。这些发现强调了对所有VCF患者持续监测可能在初始诊断时不存在的众多医学问题的重要性。我们得出结论，基因缺失的存在并不能预测VCF中的表型表达。进一步研究确定基因缺失的大小可能有助于更好地预测表型。
