Clinical relevance of monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect

@article{Hofbeck1999ClinicalRO,
  title={Clinical relevance of monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect},
  author={Michael Hofbeck and Georg Leipold and Anita Rauch and Gernot Buheitel and Helmut Singer},
  journal={European Journal of Pediatrics},
  year={1999},
  volume={158},
  pages={302-307}
}
The purpose of our study was to describe the prevalence and the clinical spectrum of monosomy 22q11.2 in a population of patients with pulmonary atresia and ventricular septal defect. We examined all 44 patients with this conotruncal cardiac malformation who presented to our institution from January 1994 until December 1997. The type of collateral lung perfusion was recorded including anomalies of the pulmonary arteries as well as facial and immunological abnormalities. Molecular-cytogenetic… CONTINUE READING
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