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Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11

✍ Scribed by Stratton, Robert F.; Payne, René M.

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
173 KB
Volume
69
Category
Article
ISSN
0148-7299

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✦ Synopsis

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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