A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia

作者：Gimelli S; Makrythanasis P; Stouder C; Antonarakis S E; Bottani A^*; Bena F

来源：European Journal of Medical Genetics, 2011, 54(1): 94-96.

DOI：10.1016/j.ejmg.2010.09.008

• 12q13.11 deletion
• Proximal 12q deletions
• Array-CGH
• Mental retardation
• Cleft palate
• Myopia

We report a de novo 12q13.11 deletion of 1.3 Mb in an 10-year-old dysmorphic girl with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome consisting mainly of severe mental retardation, cleft palate, and high myopia. The deleted region encompasses 16 RefSeq genes. Among these, it is hypothesized that haploinsufficiency of AMIGO2 is potentially responsible for the mental retardation of this patient, and of COL2A1 for the cleft palate and high myopia.

• 出版日期2011-2