Chromosome 22q11.2 deletion causes Di-George syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome with tetralogy of Fallot (TOF), and sporadic or familial TOF. To determine the prevalence and clinical importance of the 22q 11.2 deletion in TOF, a series of 212 Japanese TOF patients
Association of tetralogy of Fallot with a distinct region of del22q11.2
β Scribed by Kessler-Icekson, Gania ;Birk, Einat ;Weintraub, Ari Y. ;Barhum, Yael ;Kotlyar, Violetta ;Schlesinger, Hadassa ;Rockah, Rivka ;Vidne, Bernardo A. ;Frisch, Amos
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 88 KB
- Volume
- 107
- Category
- Article
- ISSN
- 0148-7299
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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-car
## Abstract A newborn male had an interstitial deletion of 16q21βq22.1 accompanying tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries (MAPCA), dysmorphic craniofacial features, failure to thrive, and severe psychomotor developmental delay. When the d
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