Ontology highlight
ABSTRACT:
SUBMITTER: Heithaus JL
PROVIDER: S-EPMC4988255 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Heithaus Jennifer L JL Twyman Kimberly A KA Batanian Jacqueline R JR
Molecular syndromology 20160623 3
Haploinsufficient microdeletions within chromosome 4q25 are often associated with Axenfeld-Rieger syndrome. A de novo 4q25 deletion, 675 kb proximal to PITX2, has previously been reported once in an adult patient. The patient did not have Axenfeld-Rieger anomaly, but instead had intellectual disability and a complex behavioral phenotype with withdrawn, stereotypic, and ritualistic behavior. Array comparative genome hybridization demonstrated a smaller, overlapping 4q25 deletion in a 2-year-old p ...[more]