FRONTONASAL MALFORMATION WITH TETRALOGY OF FALLOT ASSOCIATED WITH A SUBMICROSCOPIC DELETION OF 22Q11

Authors
STRATTON RF PAYNE RM
Citation
Rf. Stratton et Rm. Payne, FRONTONASAL MALFORMATION WITH TETRALOGY OF FALLOT ASSOCIATED WITH A SUBMICROSCOPIC DELETION OF 22Q11, American journal of medical genetics, 69(3), 1997, pp. 287-289
Citations number
13
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
69
Issue
3
Year of publication
1997
Pages
287 - 289
Database
ISI
SICI code
0148-7299(1997)69:3<287:FMWTOF>2.0.ZU;2-T
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 pro bes, 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 th at a gene in this area, possibly affecting neural crest cells, influen ces facial and other midline development. (C) 1997 Wiley-Liss, Inc.