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Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome
Author(s) -
Pierpont John W.,
Erickson Robert P.,
Thompson Floyd H.,
Yang JinMing
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb02735.x
Subject(s) - digeorge syndrome , genetics , anomaly (physics) , phenotype , biology , gene , physics , condensed matter physics
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.