Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.

Abstract excerpt

KBG syndrome (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, short stature, intellectual disability, skeletal, and neurologic involvement. Approximately 60 patients have been reported since it was first described in 1975. Recently mutations in ANKRD11 have been documented in patients with KBG syndrome, and it has been proposed that...

Topics

• Abnormalities, Multiple
• Bone Diseases, Developmental
• Chromosome Deletion
• Chromosomes, Human, Pair 16
• Comparative Genomic Hybridization
• Diagnosis, Differential
• Facies
• Female
• Gene Deletion
• Humans
• In Situ Hybridization, Fluorescence
• Infant
• Intellectual Disability