De novo deletion of 1q31.1-q32.1 in a patient with developmental delay and behavioral disorders

D. Milani, M. F. Bedeschi, M. Iascone, G. Chiarelli, M. Cerutti, F. Menni

Research output: Contribution to journalArticlepeer-review

Abstract

We describe the case of a 6-year-old boy with a de novo deletion of the long arm of chromosome 1 encompassing band 1q31.1-q32.1, minor facial anomalies, mild developmental delay, and behavioral disorders. His postnatal karyotype was normal. Using array-comparative genomic hybridization, we identified and characterized a de novo 1q interstitial deletion of about 15.6 Mb, which partially overlaps those of other reported cases. We considered the gene content of the deleted region in an attempt to compare the clinical features of our patient with these other cases, even though they were not characterized molecularly in detail. The most remarkable difference was the absence of microcephaly. To the best of our knowledge, this is the first report of a de novo 1q31.1-q32.1 deletion. Moreover, it illustrates how molecular delineation associated with fine clinical characterization can improve the genotype-phenotype correlations of classical cytogenetic abnormalities.

Original languageEnglish
Pages (from-to)167-170
Number of pages4
JournalCytogenetic and Genome Research
Volume136
Issue number3
DOIs
Publication statusPublished - Apr 2012

Keywords

  • 1q interstitial deletion
  • Array-CGH

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

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