Article
Chromosome 22q11 deletions in patients with selected outflow tract malformations.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1999
Frohn-Mulder I M, Wesby Swaay E, Bouwhuis C, Van Hemel J O, Gerritsma E, Niermeyer M F, Hess J
Abstract excerpt
The incidence of 22q11 deletions and its effect on the phenotype were established in 170 patients with selected outflow tract malformations and transposition of the great arteries (conotruncal defects). Cases were seen both prospectively and retrospectively. All patients had a dysmorphological evaluation by the clinical geneticist and a cytogenetic analysis including FISH analysis for 22q11 deletions. A...
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