Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients

Patients with chromosome 22q11 deletion syndrome exhibit significant phenotypic variability. Epidemiologic data suggest a higher incidence in Hispanics, but limited clinical information is available from Latin‐American patients. We describe the clinical features of Chilean patients with 22q11 deleti...

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Veröffentlicht in:	Clinical genetics 2009-11, Vol.76 (5), p.465-470
Hauptverfasser:	Repetto, GM, Guzmán, ML, Puga, A, Calderón, JF, Astete, CP, Aracena, M, Arriaza, M, Aravena, T, Sanz, P
Format:	Artikel
Sprache:	eng
Schlagworte:	22q11 deletion Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Biological and medical sciences Birth defects Child Child, Preschool Chile Chromosome Deletion Chromosome Disorders - diagnosis Chromosome Disorders - genetics Chromosome Disorders - pathology Chromosomes Chromosomes, Human, Pair 22 - genetics DiGeorge syndrome Epidemiology Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Humans Male Medical genetics Medical sciences Molecular and cellular biology Population genetics Syndrome velocardiofacial syndrome
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