Submicroscopic Deletion of 12q13 Including HOXC Gene Ouster With Skeletal Anomalies and Global Developmental Delay

摘要

We report on a patient with a submicroscopic deletion of 12ql3 detected by array-CGH and confirmed by FISH. He was hap-loinsufficient for the HOXC gene cluster and some other neighboring genes. HOX genes have an important role in the initial formation of the body. The patient showed characteristic features including severe kyphoscoliosis, digital abnormalities, cardiac anomaly, expressive language, and global developmental delay. Radiologic features of the fingers had some similarities with those for multiple synostosis syndrome. No human genetic disorders due to HOXC abnormalities are yet known. We tentatively assume that his skeletal anomalies are associated with haploinsufficiency of the HOXC gene cluster. Further studies are necessary to determine the clinical importance of haploinsuffi-ciency of the HOXC gene cluster.