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首页> 外文期刊>American journal of medical genetics, Part A >Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?
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Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?

机译：Rubinstein-Taybi综合征与大型16p13.3微缺失引起的Chiari I型畸形相关：一种连续的基因综合征？

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摘要

Rubinstein-Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). In the present report, we describe a case of a 2-year-old female with RSTS who, besides most of the typical features of RSTS has corpus callosum dysgenesis and a Chiari type I malformation which required neurosurgical decompression. CGH microarray showed a approximately 520.7 kb microdeletion on 16p13.3 involving CREBBP, ADCY9, and SRL genes. We hypothesize that the manifestations in this patient might be influenced by the haploinsufficiency for ADCY9 and SRL.
机译：Rubinstein-Taybi综合征（RSTS，OMIM 180849）是一种罕见病，在65％的病例中是由CREBBP（cAMP反应元件结合蛋白结合蛋白）的单倍剂量不足引起的，该蛋白定位于16p13.3。最近有人提出，由涉及邻近基因的16p13.3微缺失引起的一小部分RSTS病例是称为严重RSTS或16p13.3缺失综合征的真正连续基因综合征（OMIM 610543）。在本报告中，我们描述了一个2岁的女性，患有RSTS的病例，该患者除了具有RSTS的大多数典型特征外，还具有体发育不全和需要进行神经外科减压的Chiari I型畸形。 CGH微阵列在16p13.3上显示了约520.7 kb的微缺失，涉及CREBBP，ADCY9和SRL基因。我们假设该患者的表现可能受ADCY9和SRL的单倍剂量不足的影响。

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