6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay

作者：Chen Chih Ping^*; Lin Shuan Pei; Liu Yu Peng; Chern Schu Rern; Wu Peih Shan; Chen Yu Ting; Su Jun Wei; Lee Chen Chi; Wang Wayseen

来源：Gene, 2013, 523(1): 99-102.

DOI：10.1016/j.gene.2013.03.121

• 6p21.2-p12.3 deletion
• Cleidocranial dysplasia
• CUL7
• NFKBIE
• RUNX2
• VEGFA

We present an 8-year-old girl with cleidocranial dysplasia, psychomotor developmental delay, poor wound healing and a 6p21.2-p12.3 deletion detected by aCGH. The patient was previously found to have a normal karyotype on conventional cytogenetic analysis and no RUNX2 mutation on sequence analysis. We discuss the genotype phenotype correlation and the consequence of haploinsufficiency of CUL7, VEGFA, NFKBIE and RUNX2 in this case.

• 出版日期2013-7-1
• 单位中国医科大学