title: The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
abstract: A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. We have evaluated 181 patients with this deletion. We describe our cohort of patients, how they presented, and what has been learned by having the same subspecialists evaluate all of the children. The results help define the extremely variable phenotype associated with this submicroscopic deletion and will assist clinicians in formulating a management plan based on these findings.
authors.affiliation: Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104, USA.
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: D
authors.initials: D
authors.lastname: LaRossa
authors.forename: E
authors.initials: E
authors.lastname: Goldmuntz
authors.forename: K
authors.initials: K
authors.lastname: Sullivan
authors.forename: P
authors.initials: P
authors.lastname: Eicher
authors.forename: M
authors.initials: M
authors.lastname: Gerdes
authors.forename: E
authors.initials: E
authors.lastname: Moss
authors.forename: P
authors.initials: P
authors.lastname: Wang
authors.forename: C
authors.initials: C
authors.lastname: Solot
authors.forename: P
authors.initials: P
authors.lastname: Schultz
authors.forename: D
authors.initials: D
authors.lastname: Lynch
authors.forename: P
authors.initials: P
authors.lastname: Bingham
authors.forename: G
authors.initials: G
authors.lastname: Keenan
authors.forename: S
authors.initials: S
authors.lastname: Weinzimer
authors.forename: J E
authors.initials: JE
authors.lastname: Ming
authors.forename: D
authors.initials: D
authors.lastname: Driscoll
authors.forename: B J
authors.initials: BJ
authors.lastname: Clark
authors.forename: R
authors.initials: R
authors.lastname: Markowitz
authors.forename: A
authors.initials: A
authors.lastname: Cohen
authors.forename: T
authors.initials: T
authors.lastname: Moshang
authors.forename: P
authors.initials: P
authors.lastname: Pasquariello
authors.forename: P
authors.initials: P
authors.lastname: Randall
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics; D015331:Cohort Studies; D004062:DiGeorge Syndrome / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D013577:Syndrome