Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome.
Conotruncal anomaly face syndrome (CTAFS) was distinguished from velo-cardio-facial syndrome (VCFS) in a bind study, yet shared the finding of 22q11.2 deletions. This work has been extended to show that the 22q11.2 deletions in CTAFS greatly overlap those found in VCFS and many DiGeorge patients. The reason for dissimilar phenotypes with apparently similar 22q11.2 deletions is not yet known.
Pierpont
J W
JW
Angel Charities for Children-Wings for Genetic Research, Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona, Tucson 85724-5073, USA.
Erickson
R P
RP
Thompson
F H
FH
Yang
J M
JM
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D002869:Chromosome Aberrations / Q000145:classification / Q000235:genetics*; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype; D017384:Sequence Deletion; D013577:Syndrome