title: A CGH study of 27 patients with CHARGE association.
abstract: CHARGE association is a non-random occurrence of congenital malformations including coloboma, heart disease, choanal atresia, retarded growth and/or retarded development, genital hypoplasia, ear anomalies and/or deafness. The cause of this association remains unknown. Various genetic mechanisms have been proposed, including a contiguous gene syndrome but, so far, no recurrent locus has been identified. To address this question, we decided to perform a comparative genomic hybridization (CGH) study on a cohort of 27 patients with CHARGE association and a normal standard karyotype. We found two chromosomal anomalies: a der(9)t(9;13) derived from a paternal translocation and a der(6)t(4;6) of unknown origin. This suggests that chromosome imbalances may well mimic CHARGE association. Therefore patients with CHARGE association must be carefully tested with classical and molecular cytogenetic techniques to detect a potential chromosome imbalance. It is expected that more stringent diagnostic criteria of CHARGE association could define a more homogeneous group of patients where a single genetic cause might be identified.
authors.affiliation: Département de Génétique Hôpital Necker Enfants Malades, Paris, France.
authors.forename: D
authors.initials: D
authors.lastname: Sanlaville
authors.forename: S P
authors.initials: SP
authors.lastname: Romana
authors.forename: J M
authors.initials: JM
authors.lastname: Lapierre
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: D
authors.initials: D
authors.lastname: Genevieve
authors.forename: C
authors.initials: C
authors.lastname: Ozilou
authors.forename: M
authors.initials: M
authors.lastname: Le Lorch
authors.forename: S
authors.initials: S
authors.lastname: Brisset
authors.forename: P
authors.initials: P
authors.lastname: Gosset
authors.forename: C
authors.initials: C
authors.lastname: Baumann
authors.forename: C
authors.initials: C
authors.lastname: Turleau
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002754:Choanal Atresia / Q000235:genetics*; D002869:Chromosome Aberrations; D002875:Chromosomes / Q000648:ultrastructure; D015331:Cohort Studies; D003103:Coloboma / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006720:Homozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D013577:Syndrome