Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.

  title={Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.},
  author={Luis Fern{\'a}ndez and P Lapunzina and Isidora L{\'o}pez Pajares and Mar{\'i}a T Liz-Lois Palomares and I. Reinares Mart{\'i}nez and Blanca Silva Fern{\'a}ndez and Jos{\'e} Quero and Luis Garc{\'i}a-Guereta and Alfredo Garc{\'i}a-Alix and Margarita Burgueros and Enrique Gal{\'a}n-G{\'o}mez and Jos{\'e} Mar{\'i}a Carbonell-P{\'e}rez and Angeles P{\'e}rez-Granero and Laura Torres-Juan and Dami{\`a} Heine-Su{\~n}er and Jordi Rosell and Alicia Delicado},
  journal={American journal of medical genetics. Part A},
  volume={146A 9},
Screening for 22q11.2 deletions has not an easy approach due to the wide variability of their associated phenotype. Many clinical features overlap with those of other known syndromes and reported loci. Patients referred to exclude a 22q11.2 deletion are usually tested with a locus-specific FISH probe, with 10% positive cases depending on the selection criteria, but patients testing negative for FISH at 22q11.2 may have other chromosomal aberrations in routine cytogenetic analysis. We tested 819… CONTINUE READING