Pankau R, Siebert R, Kautza M, Schneppenheim R, Gosch A, Wessel A, Partsch C J
Children's Hospital, St. Bernward Krankenhaus, Hildesheim, Germany.
Am J Med Genet. 2001 Feb 1;98(4):324-9. doi: 10.1002/1096-8628(20010201)98:4<324::aid-ajmg1103>3.0.co;2-5.
Williams-Beuren syndrome (WBS) is a contiguous gene syndrome that occurs mainly sporadically, with an estimated frequency of 1:13,700 to 1:25,000 [Grimm and Wesselhoeft, 1980; Martin et al., 1984; Udwin, 1990]. The cases of monozygotic twins concordant for WBS and dizygotic twins discordant for the syndrome have been reported. In addition, a few familial cases have been described since 1993. The clinical diagnosis has been supported by molecular genetic findings in only two patients, however. We herein report on two families in which the WBS was inherited in girls from their mothers. All four patients showed the typical hemizygous deletion at 7q11.23 [46,XX, ish,del(7)(q11.23q11.23) (ELN/LIMK1/D7S-613x1, D7S486/D7S522x2)], but the clinical picture was strikingly variable within and between families.
威廉姆斯-博伦综合征（WBS）是一种连续性基因综合征，主要为散发性发病，估计发病率为1:13700至1:25000[格林姆和韦塞尔赫夫特，1980年；马丁等人，1984年；乌德温，1990年]。有报道称单卵双胞胎患WBS一致，双卵双胞胎患该综合征不一致。此外，自1993年以来已描述了一些家族性病例。然而，仅有两名患者的分子遗传学结果支持临床诊断。我们在此报告两个家族，其中WBS在女孩中由其母亲遗传而来。所有四名患者均在7q11.23处显示典型的半合子缺失[46,XX, ish,del(7)(q11.23q11.23) (ELN/LIMK1/D7S - 613x1, D7S486/D7S522x2)]，但家族内部和家族之间的临床表现差异显著。
