Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11.
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.
Stratton
R F
RF
South Texas Genetics Center, San Antonio 78205, USA.
Payne
R M
RM
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009666:Nose / Q000002:abnormalities*; D013771:Tetralogy of Fallot / Q000235:genetics*