Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: Inv(2)(p15;q24.2)

Einat Granot-Hershkovitz, Annick Raas-Rothschild, Ayala Frumkin, David Granot, Shira Silverstein, Dvorah Abeliovich

Research output: Contribution to journalArticlepeer-review

Abstract

Cytogenetic analysis of DNA from a girl with severe psychomotor retardation revealed a de novo pericentric inversion of chromosome 2: 46,XX,inv(2)(p15q24.2). In order to elucidate the possible role of the inversion in the girl's abnormal phenotype, we analyzed the inversion breakpoints. FISH analysis revealed BAC clones spanning the breakpoints at 2p and 2q of the inversion. Southern blot hybridization with DNA probes from the BAC regions was used to refine the localization of the breakpoints, followed by inverse-PCR which enabled us to sequence the inversion breakpoints. We found a complex chromosomal rearrangement, including five breakpoints, four at 2q and one at 2p joined with minor insertions/deletions of a few bases. The breakpoint at 2p was within the NRXN1 gene that has previously been associated with autism, intellectual disabilities, and psychiatric disorders. In 2q, the breakpoints disrupted two genes, TANC1 and RBMS1; the phenotypic effect of these genes is not currently known.

Original languageEnglish
Pages (from-to)1825-1832
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number8
DOIs
StatePublished - Aug 2011
Externally publishedYes

Keywords

  • Chromosome 2 inversion
  • Complex chromosomal rearrangement
  • Intellectual disability
  • Inverse-PCR
  • NRXN1

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