ヤマモト　トシユキ   YAMAMOTO Toshiyuki   山本　俊至    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
Article types	Original article
Language	English
Peer review	Non peer reviewed
Title	Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay.
Journal	Formal name：American Journal of Medical Genetics
Volume, Issue, Page	155(12),pp.2997-3001
Author and coauthor	Nobuhiko Okamoto, Daisuke Tamura, Gen Nishimura, Keiko Shimojima, Toshiyuki Yamamoto
Publication date	2011/12
Summary	We report on a patient with a submicroscopic deletion of 12q13 detected by array-CGH and confirmed by FISH. He was haploinsufficient 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 haploinsufficiency of the HOXC gene cluster.
DOI	10.1002