Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11.
- Published Article
American journal of medical genetics
- Publication Date
Mar 31, 1997
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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The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/9096758