title: Features of DiGeorge syndrome and CHARGE association in five patients.
abstract: We report on five patients presenting with features of two congenital disorders, DiGeorge syndrome (DGS) and CHARGE association. CHARGE association is usually sporadic and its origin is as yet unknown. Conversely, more than 90% of DGS patients are monosomic for the 22q11.2 chromosomal region. In each of the five patients, both cytogenetic and molecular analysis for the 22q11.2 region were normal. In view of the broad clinical spectrum and the likely genetic heterogeneity of both disorders, these cases are consistent with the extended phenotype of either DGS without 22q11.2 deletion or CHARGE association, especially as several features of CHARGE association have been reported in rare patients with 22q11.2 deletion association phenotypes. On the other hand, these could be novel cases of an independent association involving a complex defect of neural crest cells originating from the pharyngeal pouches.
authors.affiliation: Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: de Lonlay-Debeney
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: V
authors.initials: V
authors.lastname: Abadie
authors.forename: S
authors.initials: S
authors.lastname: Odent
authors.forename: A
authors.initials: A
authors.lastname: Paupe
authors.forename: S
authors.initials: S
authors.lastname: Couderc
authors.forename: A L
authors.initials: AL
authors.lastname: Tellier
authors.forename: D
authors.initials: D
authors.lastname: Bonnet
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008297:Male