Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication

Craig Horbinski, Erika M. Carter, Patricia L. Heard, Malini Sathanoori, Jie Hu, Jerry Vockley, Shelly Gunn, Daniel Hale, Urvashi Surti, Jannine D. Cody

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Recurrent constitutional non-Robertsonian translocations are very rare. We present the third instance of cryptic, unbalanced translocation between 4q and 18q. This individual had an apparently normal karyotype; however, after subtelomere fluorescence in situ hybridization (FISH), he was found to have a cryptic unbalanced translocation between 4q and 18q [ish der(18)t(4;18)(q35;q23) (4qtel+, 18qtel-)]. Oligonucleotide array comparative genomic hybridization (aCGH) refined the breakpoints in this child and in the previously reported child and indicated that the breakpoints were within 20 kb of each other, suggesting that this translocation is, indeed, recurrent. A comparison of the clinical presentation of these individuals identified features that are characteristic of both 18q- and 4q+ as well as features that are not associated with either condition, such as a prominent metopic ridge, bitemporal narrowing, prominent, and thick eyebrows. Individuals with features suggestive of this 4q;18q translocation but a normal karyotype warrant aCGH or subtelomere studies.

Original languageEnglish (US)
Pages (from-to)2898-2904
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number22
Publication statusPublished - Nov 15 2008


All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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