Balci Sevim, Ergün Mehmet Ali, Yüksel-Konuk E Berrin, Bartsch Oliver
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2008 May-Jun;50(3):265-8.
We report on a six-year-old boy with typical Rubinstein-Taybi syndrome (RSTS) phenotype. Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes, and inguinal hernia. His karyotype was normal (46, XY) and fluorescence in situ hybridization (FISH) showed no deletion of the CREBBP [cAMP response element-binding (CREB) binding protein] gene on chromosome 16p13.3. CREBBP gene sequencing also revealed normal results. We wish to present this case because this patient had typical RSTS phenotype, but normal FISH and CREBBP gene sequencing results. It could be possible that genetic heterogeneity is related with novel mutations in other genes. With the publication of such cases, their significance will be brought to the attention of researchers in this field.
我们报告了一名患有典型鲁宾斯坦-泰比综合征（RSTS）表型的6岁男孩。临床发现包括智力和运动发育迟缓、动脉导管未闭（PDA）、隐睾、多毛症、伴有桡侧成角的宽拇指和宽脚趾以及腹股沟疝。他的核型正常（46, XY），荧光原位杂交（FISH）显示16p13.3染色体上的CREBBP [cAMP反应元件结合（CREB）结合蛋白]基因无缺失。CREBBP基因测序结果也正常。我们希望展示这个病例，因为该患者具有典型的RSTS表型，但FISH和CREBBP基因测序结果正常。可能遗传异质性与其他基因的新突变有关。随着此类病例的发表，其重要性将引起该领域研究人员的关注。
