Tsui K M, Ng Y Y, Lam T S
Clinical Genetic Service, Department of Health, Hong Kong.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1997 Jan-Feb;38(1):52-6.
DiGeorge syndrome is a developmental field defect involving the third and fourth branchial arches and pouches. It is characterised by conotruncal heart defect, thymic hypoplasia/aplasia, hypocalcemia secondary to hypoparathyroidism and dysmorphic facies. Most of the cases are associated with interstitial deletion of chromosome 22 which can be detected by fluorescent in situ hybridisation study. The clinical presentation of DiGeorge syndrome is highly variable, in both interfamilial and intrafamilial situations. Apart from DiGeorge syndrome, velocardiofacial syndrome and other conditions are also associated with the same interstitial deletion. Here we reported a Chinese family with the same submicroscopic deletion of chromosome 22 as evident by fluorescent in situ hybridisation, but with different clinical presentation; the two brothers had DiGeorge syndrome and velocardiofacial syndrome respectively whereas the mother was asymptomatic.
迪乔治综合征是一种涉及第三和第四鳃弓及咽囊的发育性场缺陷。其特征为圆锥动脉干心脏缺陷、胸腺发育不全/发育不良、甲状旁腺功能减退继发的低钙血症和面部畸形。大多数病例与22号染色体的间质缺失有关，可通过荧光原位杂交研究检测到。迪乔治综合征的临床表现无论是在家族间还是家族内都具有高度变异性。除迪乔治综合征外，腭心面综合征和其他病症也与相同的间质缺失有关。在此，我们报告了一个中国家庭，通过荧光原位杂交显示该家庭存在相同的22号染色体亚显微缺失，但临床表现不同；两兄弟分别患有迪乔治综合征和腭心面综合征，而母亲无症状。
