Jul 9, 2011

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

American Journal of Medical Genetics. Part a
Einat Granot-HershkovitzDvorah Abeliovich


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.

  • References12
  • Citations2


  • References12
  • Citations2

Mentioned in this Paper

NRXN1 gene
Establishment and Maintenance of Localization
Chromosome Banding
RBMS1 protein, isoform c, human
DNA Probes
TANC1 gene
Inversion Mutation Abnormality
Fetishism (Psychiatric)
Chromosome Breakpoint Sequence
Candidate Gene Identification

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