An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma.

@article{Minhas2013AnUT,
  title={An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma.},
  author={Hassan M Minhas and Matthew F. Pescosolido and Matthew Schwede and Justyna B Piasecka and John Gaitanis and Umadevi Tantravahi and Eric M. Morrow},
  journal={American journal of medical genetics. Part A},
  year={2013},
  volume={161A 4},
  pages={787-91}
}
We report on a pedigree with a pair of brothers each with minor anomalies, developmental delay, and autistic-symptoms who share an unbalanced translocation (not detectable by karyotype). The unbalanced translocation involves a 7.1 Mb loss of the terminal portion of 10q, and a 4.2 Mb gain of 11q. One of the brothers also developed a cerebellar juvenile pilocytic astrocytoma. The father was found to be a balanced carrier and the couple had a previous miscarriage. We demonstrate that the… CONTINUE READING