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

Valerie Lindgren*, Anne McRae, Richard Dineen, Alexandria Saulsberry, George Hoganson, Michael Joel Schrift

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)346-353
Number of pages8
JournalMolecular Genetics and Genomic Medicine
Volume3
Issue number4
DOIs
StatePublished - Jul 2015

Keywords

  • Distal 22q11.2 microdeletion
  • Distal 22q11.2 microduplication
  • Low copy repeats
  • Neuropsychiatric problems

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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