Lacombe D
Service de pédiatrie et génétique médicale, hôpital Pellegrin-Enfants, Bordeaux, France.
Arch Pediatr. 1994 Jul;1(7):681-3.
The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by mental and growth retardation, broad thumbs, broad big toes, and typical face. A locus for a gene involved in the origin of RTS has been determined on chromosome 16 (16p13.3). RTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximatively 25% of patients, using fluorescence in situ hybridization with specific probes.
鲁宾斯坦-泰比综合征（RTS）是一种明确的先天性畸形综合征，其特征为智力和生长发育迟缓、拇指宽大、大脚趾宽大以及典型面容。已确定16号染色体（16p13.3）上存在一个与RTS发病相关的基因位点。使用特异性探针进行荧光原位杂交检测发现，约25%的患者中存在16p13.3区域的亚显微间隙缺失，这是RTS的病因。
