Ounap K, Laidre P, Bartsch O, Rein R, Lipping-Sitska M
Medical Genetics Center, Tartu University Children's Hospital, Estonia.
Am J Med Genet. 1998 Dec 28;80(5):491-3. doi: 10.1002/(sici)1096-8628(19981228)80:5<491::aid-ajmg10>3.0.co;2-j.
Williams-Beuren syndrome (WBS) occurs sporadically; however, at least four familial cases of WBS have been described previously. We describe a mother and her son with typical WBS. The diagnosis of WBS in the son was confirmed by molecular cytogenetic analysis fluorescence in situ hybridization. He had a deletion of 7q11.23 at the ELN locus. The mother was diagnosed after the identification of WBS in her affected son. She is deceased and was thus not studied by FISH. However, her combined symptoms make it very clear that she had WBS. Two traits uncommon in WBS were observed, unilateral renal hypoplasia in the mother and a hemivertebra at L5 in the son.
威廉姆斯-贝伦综合征（WBS）呈散发性出现；然而，此前已描述过至少4例WBS家族病例。我们描述了一位患有典型WBS的母亲及其儿子。通过分子细胞遗传学分析荧光原位杂交技术确诊了儿子的WBS。他在ELN基因座处存在7q11.23缺失。母亲是在其患病儿子被诊断出WBS后才得以确诊。她已去世，因此未进行荧光原位杂交研究。然而，她的综合症状明确表明她患有WBS。我们观察到了WBS中不常见的两个特征，母亲单侧肾发育不全以及儿子L5处半椎体畸形。
