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Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient


  • How to cite this article: Tirado CA, Gotway G, Torgbe E, Iyer S, Dallaire S, Appleberry T, Suterwala M, Garcia R, Valdez F, Patel S, Koduru P. 2012. Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient. Am J Med Genet Part A 158A:206–214.

  • Carlos A. Tirado and Garrett Gotway contributed equally to this paper.


Individuals with pericentric inversions are at risk for producing offspring with chromosomal gains and losses, while those carrying paracentric inversions usually produce unviable gametes [Madan, 1995]. In this current study, we present a newborn with dysmorphic features and malformations, whose karyotype showed an abnormal copy of chromomosome 7 described at first as add(7)(q32) as well as mos 45,X/47,XXX. Array comparative genomic hybridization (CGH) revealed an interstitial deletion in the long arm of chromosome 7 involving bands q35 to q36.3 but retaining the 7q subtelomere. The patient's deletion is believed to be due to meiotic recombination in the inversion loop in the phenotypically normal father who seems to carry two paracentric inversions in the long arm of chromosome 7, which was described as rec(7)(7pter- > q35::q36.3- > 7qter)pat. The abnormal copy of chromosome 7 in the father has been described as: der(7)(7pter- > q22.1::q36.3- > q35::q22.1- > q35::q36.3- > 7qter). This is a unique karyotype that to our knowledge has not been previously reported in the literature and predisposes to meiotic recombination that can result in deletions or duplications of 7q35–36. © 2011 Wiley Periodicals, Inc.