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.

SUBMITTER: Lindgren V 

PROVIDER: S-EPMC4521969 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature