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22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

✍ Scribed by Francesca Amati; Aldo Mari; Maria Cristina Digilio; Rita Mingarelli; Bruno Marino; Aldo Giannotti; Giuseppe Novelli; Bruno Dallapiccola


Publisher
Springer
Year
1995
Tongue
English
Weight
413 KB
Volume
95
Category
Article
ISSN
0340-6717

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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