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

Authors
  • Stratton, R F
  • Payne, R M
Type
Published Article
Journal
American journal of medical genetics
Publication Date
Mar 31, 1997
Volume
69
Issue
3
Pages
287–289
Identifiers
PMID: 9096758
Source
Medline
License
Unknown

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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