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Since a vascular ring may be a sign of a 22q11.2 deletion [Zackai et al., 1995], FISH (fluorescence<jats:italic>in situ<\/jats:italic>hybridization) studies were performed. These studies demonstrated a 22q11.2 deletion in the 3 affected individuals.<\/jats:p><jats:p>Review of Opitz GBBB syndrome and the 22q11.2 microdeletion syndrome demonstrates significant overlap of manifestations including both facial characteristics and structural anomalies. Based on the phenotypic overlap and the presence of a 22q11.2 deletion in our patients with Opitz GBBB syndrome and the presence of a deletion in a patient with lung hypoplasia, absent pulmonary artery, and long segment trachemoalacia, we propose that, in some cases, the Opitz GBBB syndrome may be due to a 22q11.2 deletion. This enlarges the list of \u201csyndromes\u201d associated with the 22q11.2 deletion, which presently includes most patients with DiGeorge, velocardiofacial, and conotruncal anomaly face syndrome. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590122","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:09:09Z","timestamp":1118513349000},"page":"103-113","source":"Crossref","is-referenced-by-count":122,"title":["Autosomal dominant \u201cOpitz\u201d GBBB syndrome due to a 22q11. 2 deletion"],"prefix":"10.1002","volume":"59","author":[{"given":"Donna M.","family":"McDonald\u2010McGinn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah 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