Serville F, Lacombe D, Saura R, Billeaud C, Sergent M P
Unité de génétique, Hopital Pellegrin-Enfants, Bordeaux.
Genet Couns. 1993;4(2):109-12.
We report the occurrence of Townes-Brocks syndrome (TBS) in an infant with a two break reciprocal translocation between chromosome 5 and chromosome 16. The occurrence of both abnormalities in the same subject could be due to chance. However, it is of interest to note that a familial case of TBS associated with an inv(16) with the same breakpoint at 16q12.1 has been reported. We suggest the possible disruption of the TBS gene at this breakpoint.
我们报告了一名患有5号染色体与16号染色体之间双断裂相互易位的婴儿发生汤姆斯-布罗克斯综合征（TBS）的情况。同一受试者同时出现这两种异常可能是出于偶然。然而，值得注意的是，曾有报道称有一例家族性TBS病例与16号染色体倒位（inv(16)）相关，其断点位于16q12.1，与本病例相同。我们推测在此断点处TBS基因可能受到了破坏。
