title: Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay.
abstract: 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.
authors: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. okamoto@osaka.email.ne.jp
authors: Nobuhiko
authors: N
authors: Okamoto
authors: Daisuke
authors: D
authors: Tamura
authors: Gen
authors: G
authors: Nishimura
authors: Keiko
authors: K
authors: Shimojima
authors: Toshiyuki
authors: T
authors: Yamamoto
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000000981:diagnostic imaging / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007738:Kyphosis / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D005810:Multigene Family; D010641:Phenotype; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins