A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.

@article{HaldemanEnglert2010ADN,
  title={A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.},
  author={Chad R Haldeman-Englert and Kimberly Ann Chapman and Hillary Kruger and Elizabeth A. Geiger and Donna M McDonald-McGinn and E. Rappaport and E H Zackai and Nancy B. Spinner and Tamim H. Shaikh},
  journal={American journal of medical genetics. Part A},
  year={2010},
  volume={152A 1},
  pages={196-202}
}
We report here on a normal-appearing male with pervasive developmental disorder who was found to have a de novo, apparently balanced complex rearrangement involving chromosomes 6, 10, and 21: 46,XY,ins(21;10)(q11.2;p11.2p13)t(6;21)(p23;q11.2). Further analysis by high-density oligonucleotide microarray was performed, showing an 8.8-Mb heterozygous deletion at 21q21.1-q21.3. Interestingly, the deletion is distal to the translocation breakpoint on chromosome 21. The deletion involves 19 genes… CONTINUE READING

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