Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome.
Saraiva
J M
JM
Matoso
E
E
Marques
I
I
D000015:Abnormalities, Multiple / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans