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  • Title: Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11.
    Author: Stratton RF, Payne RM.
    Journal: Am J Med Genet; 1997 Mar 31; 69(3):287-9. PubMed ID: 9096758.
    Abstract:
    We report on a 14-month-old girl with bifid nasal tip and tetralogy of Fallot. Several similar patients have been described with CNS or eye abnormalities. Chromosome analysis with FISH, using Oncor DiGeorge probes, confirmed a submicroscopic deletion of 22q11. Many patients with Shprintzen (velo-cardio-facial) syndrome have a similar deletion with conotruncal cardiac defects and an abnormal nasal shape, suggesting that a gene in this area, possibly affecting neural crest cells, influences facial and other midline development.
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