Article
The deletions of 22q11--the Portuguese experience.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1999
Gaspar I M, Lourenço M T, Reis M I, Soares M A, Nogueira G, Ferreira F, Feijóo M J
Abstract excerpt
The patients with a chromosome 22q11 deletion have a variable phenotype which includes DiGeorge (DG) and Velocardiofacial (VCF) syndromes. The aim of the present study is to characterize the phenotype of DG and VCF using facial biometry in 12 portuguese patients. We found 4/12 patients with the DG phenotype: 3/4 had telecanthus, small mouth and retrognathia; 1/4 had telecanthus, short nose with bulbous tip and a...
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