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22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot

✍ Scribed by Mercer-Rosa, Laura; Pinto, Nelangi; Yang, Wei; Tanel, Ronn; Goldmuntz, Elizabeth


Book ID
122491126
Publisher
CTSNet
Year
2013
Tongue
English
Weight
84 KB
Volume
146
Category
Article
ISSN
1097-685X

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Frequent association of 22q11.2 deletion
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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

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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