Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications

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. We describe six individuals with microdeletions and microduplications in distal 22q11.2 detected by microarray. Severe behavioral/neuropsychiatric of early onset is notable in these patients. Our patients add to the genotype–phenotype correlations which are still being generated for these chromosomal anomalies.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research