Premium
Complex chromosomal rearrangement in a girl with psychomotor‐retardation and a de novo inversion: inv(2)(p15;q24.2)
Author(s) -
GranotHershkovitz Einat,
RaasRothschild Annick,
Frumkin Ayala,
Granot David,
Silverstein Shira,
Abeliovich Dvorah
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33952
Subject(s) - breakpoint , chromosomal inversion , genetics , biology , southern blot , chromosomal rearrangement , gene , inversion (geology) , phenotype , psychomotor retardation , karyotype , cytogenetics , chromosome , microbiology and biotechnology , medicine , paleontology , alternative medicine , pathology , structural basin
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. © 2011 Wiley‐Liss, Inc.