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

@article{Tirado2012RecombinantC7,
  title={Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient.},
  author={Carlos A. Tirado and Garrett Gotway and Emmanuel Torgbe and Santha Iyer and Stephanie Dallaire and Taylor Appleberry and Mohamed Suterwala and Rolando Garcia and Federico J Valdez and Sangeeta P. Patel and Prasad Koduru},
  journal={American journal of medical genetics. Part A},
  year={2012},
  volume={158A 1},
  pages={206-14}
}
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… CONTINUE READING