Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype

作者：Marangi Giuseppe; Leuzzi Vincenzo; Orteschi Daniela; Grimaldi Maria E; Lecce Rosetta; Neri Giovanni; Zollino Marcella^*

来源：American Journal of Medical Genetics, Part A, 2008, 146A(18): 2313-2317.

DOI：10.1002/ajmg.a.32460

• CBP duplication
• multiple congenital anomalies/mental retardation syndrome

We report on a 16-year-old girl with a multiple congential anomalies/mental retardation condition, in which a 1.7 Mb tandem duplication of chromosome region 16p13.3 was detected by array-CGH. Mental retardation was moderate (IQ 45), with very limited speech. She had tall stature with relative microcephaly. Clinical manifestations included distinctive facial apperance with deep set eyes, narrow palpebral fissures, wide nasal bridge, long philtrum, rounded nasal tip, thin upper lip, protruding mandible and abnormal auricles, hand and foot anomalies. The causal 16p13.3 duplication is one of the smallest reported so far, and included the CBP gene, whose haploinsufficiency is responsible for the Rubinstein-Taybi syndrome. By comparing clinical manifestations of our patient with those of patients carrying similar rearrangements, we coud infer that 16p13.3 microduplications encompassing the Rubinstein-Taybi region resulted in a recognizable clinical condition, most likely representing a single disorder.

• 出版日期2008-9-15
• 单位河北医科大学