An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.

@article{Toutain2011AnUC,
  title={An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.},
  author={J{\'e}r{\^o}me Toutain and Laurence Taine and Fanny Morice-Picard and Houria Hallal and Zong-Qi Dai and Beno{\^i}t Arveiler and Didier Lacombe and Jacques Horovitz and Robert Saura},
  journal={European journal of medical genetics},
  year={2011},
  volume={54 3},
  pages={292-4}
}
We report an unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman with a family medical history of 22q11 deletion. Using peripheral blood samples, conventional karyotyping, Fluorescence In Situ Hybridization (FISH) analysis on metaphase spreads and oligo array-based comparative genomic hybridization (oligo array-CGH) were performed. After conventional cytogenetic examination, the chromosome formula was as follows: 47,XX,+r… CONTINUE READING