Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.

@article{Papadopoulou2010PhenotypegenotypeCO,
  title={Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.},
  author={Eleftheria Papadopoulou and Carolina Sismani and Christodoulos I. Christodoulou and Marios Ioannides and Maria C Kalmanti and Philippos C. Patsalis},
  journal={American journal of medical genetics. Part A},
  year={2010},
  volume={152A 6},
  pages={1515-22}
}
We report on a 2-year-old boy with intellectual disabilities, distinctive facies, hypotonia, cardiac, and renal malformations. During his infancy he had recurrent episodes of apnea, cyanosis, and bradycardia. Chromosomal analysis showed a de novo apparently balanced translocation 46,XY,t(9;15)(q31;q26)dn. The use of array-comparative genomic hybridization (CGH) however, revealed the presence of additional cryptic complex chromosomal rearrangements involving a approximately 5-5.8 Mb distal… CONTINUE READING