Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome

摘要: DiGeorge syndrome (DGS) is a developmental field defect of the third and fourth pharyngeal pouches. It associated with deletion 22q11 in 11% cases. Molecular genetic analysis probes from 22q11-pter reveals that subset markers hemizygous DGS patients normal karyotypes. There no apparent difference phenotype or severity disorder between smallest detectable submicroscopic those largest cytogenetically visible abnormality. A microdeletion was found mildly affected child severely father. Dysmorphology, especially cardiac outflow tract anomalies, resulting may be more common than currently realized since chromosomes are unlikely to checked if complete spectrum not present. Antenatal diagnosis, through detection hemizygosity at 22q11, will possibility for parents unwilling risk birth child.