DiGeorge's syndrome: a gene at last
A Baldini - The Lancet, 2003 - thelancet.com
The Lancet, 2003•thelancet.com
DiGeorge's syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome
have been associated with a heterozygous chromosomal deletion of 22q11. 2 (del22q11),
and they are usually referred to as the 22q11 deletion syndromes (22q11DS). 1, 2 Patients
present with pharyngeal, neurobehavioural, and other clinical findings. The pharyngeal
phenotype refers to abnormalities attributable to developmental defects of the embryonic
pharyngeal apparatus (heart outflow tract, craniofacial, velo-
have been associated with a heterozygous chromosomal deletion of 22q11. 2 (del22q11),
and they are usually referred to as the 22q11 deletion syndromes (22q11DS). 1, 2 Patients
present with pharyngeal, neurobehavioural, and other clinical findings. The pharyngeal
phenotype refers to abnormalities attributable to developmental defects of the embryonic
pharyngeal apparatus (heart outflow tract, craniofacial, velo-
DiGeorge’s syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome have been associated with a heterozygous chromosomal deletion of 22q11. 2 (del22q11), and they are usually referred to as the 22q11 deletion syndromes (22q11DS). 1, 2 Patients present with pharyngeal, neurobehavioural, and other clinical findings. The pharyngeal phenotype refers to abnormalities attributable to developmental defects of the embryonic pharyngeal apparatus (heart outflow tract, craniofacial, velo-
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