Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome.

@article{Consevage1996AssociationOA,
  title={Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome.},
  author={Michael W. Consevage and James R. Seip and Deborah A Belchis and Alan T. Davis and Barry G. Baylen and Peter K. Rogan},
  journal={The American journal of cardiology},
  year={1996},
  volume={77 11},
  pages={1023-5}
}
The atypical presentation of CATCH 22 raises several important concerns. First, in this patient, as in others, the heart defects were found in association with subtle facial abnormalities but with few of the other criteria normally seen in CATCH 22. This association alone may be sufficient to raise suspicion that an interstitial 22q11 deletion may be present. Second, the incidence of chromosome 22 deletions in parents of children with a 22q11 deletion (25%) suggests that siblings or subsequent… CONTINUE READING