title: Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.
abstract: We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities in the region between LCR22 D-E have hearing loss, which has previously been reported only once in association with these abnormalities. We especially note the behavioral/neuropsychiatric problems, including the severity and early onset, in patients with distal 22q11.2 rearrangements. Our patients add to the genotype-phenotype correlations which are still being generated for these chromosomal anomalies.
authors.affiliation: Department of Pathology, University of Illinois Chicago, Illinois.
authors.forename: Valerie
authors.initials: V
authors.lastname: Lindgren
authors.affiliation: Department of Pediatrics, University of Illinois Chicago, Illinois.
authors.forename: Anne
authors.initials: A
authors.lastname: McRae
authors.affiliation: Department of Pediatrics, University of Illinois Chicago, Illinois.
authors.forename: Richard
authors.initials: R
authors.lastname: Dineen
authors.affiliation: Department of Pediatrics, University of Illinois Chicago, Illinois.
authors.forename: Alexandria
authors.initials: A
authors.lastname: Saulsberry
authors.affiliation: Department of Pediatrics, University of Illinois Chicago, Illinois.
authors.forename: George
authors.initials: G
authors.lastname: Hoganson
authors.affiliation: Department of Psychiatry, University of Illinois Chicago, Illinois.
authors.forename: Michael
authors.initials: M
authors.lastname: Schrift
keywords: Distal 22q11.2 microdeletion; distal 22q11.2 microduplication; low copy repeats; neuropsychiatric problems