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Human Molecular Genetics, 2000, Vol. 9, No. 11 1665-1670
© 2000 Oxford University Press

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)

Hiroki Kurahashi1,+, Tamim H. Shaikh1,+, Ping Hu3, Bruce A. Roe3, Beverly S. Emanuel1,2,§ and Marcia L. Budarf1,2

1Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA, 2Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA and 3Department of Chemistry and Biochemistry, University of Oklahoma, Norman, OK 73019, USA

The constitutional t(11;22)(q23;q11) is the only known recurrent, non-Robertsonian translocation. To analyze the genomic structure of the breakpoint, we have cloned the junction fragments from the der(11) and der(22) of a t(11;22) balanced carrier. On chromosome 11 the translocation occurs within a short, palindromic AT-rich region (ATRR). Likewise, the breakpoint on chromosome 22 has been localized within an ATRR that is part of a larger palindrome. Interestingly, the 22q11 breakpoint falls within one of the ‘unclonable’ gaps in the genomic sequence. Further, a sequenced chromosome 11 BAC clone, spanning the t(11;22) breakpoint in 11q23, is deleted within the palindromic ATRR, suggesting instability of this region in bacterial clones. Several unrelated t(11;22) families demonstrate similar breakpoints on both chromosomes, indicating that their translocations are within the same palindrome. It is likely that the palindromic ATRRs produce unstable DNA structures in 22q11 and 11q23 that are responsible for the recurrent t(11;22) translocation.

+ These authors contributed equally to this work

§ To whom correspondence should be addressed at: The Children’s Hospital of Philadelphia, 1002 Abramson Research Center, 3516 Civic Center Boulevard, Philadelphia, PA 19104, USA. Tel: +1 215 590 3856; Fax: +1 215 590 3764; Email: beverly@mail.med.upen.edu


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