title: Genetic compensation in a human genomic disorder.
abstract: Cytogenetic studies of the parents of a girl with the DiGeorge (or velocardiofacial) syndrome, who carried a deletion at 22q11.2, revealed an unexpected rearrangement of both 22q11.2 regions in the unaffected father. He carried a 22q11.2 deletion on one copy of chromosome 22 and a reciprocal 22q11.2 duplication on the other copy of chromosome 22. Genetic compensation, which is consistent with the normal phenotype of the father, was shown through quantitative-expression analyses of genes located within the genetic region associated with the DiGeorge syndrome. This finding has implications for genetic counseling and represents a case of genetic compensation in a human genomic disorder.
authors.affiliation: Department of Cytogenetics, Strasbourg University Hospital, Strasbourg, France.
authors.forename: Nadège
authors.initials: N
authors.lastname: Carelle-Calmels
authors.forename: Pascale
authors.initials: P
authors.lastname: Saugier-Veber
authors.forename: Françoise
authors.initials: F
authors.lastname: Girard-Lemaire
authors.forename: Gabrielle
authors.initials: G
authors.lastname: Rudolf
authors.forename: Bérénice
authors.initials: B
authors.lastname: Doray
authors.forename: Eric
authors.initials: E
authors.lastname: Guérin
authors.forename: Pierre
authors.initials: P
authors.lastname: Kuhn
authors.forename: Mathilde
authors.initials: M
authors.lastname: Arrivé
authors.forename: Catherine
authors.initials: C
authors.lastname: Gilch
authors.forename: Evelyne
authors.initials: E
authors.lastname: Schmitt
authors.forename: Séverine
authors.initials: S
authors.lastname: Fehrenbach
authors.forename: Albert
authors.initials: A
authors.lastname: Schnebelen
authors.forename: Thierry
authors.initials: T
authors.lastname: Frébourg
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Flori
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D005220:Fathers; D005260:Female; D020440:Gene Duplication; D015321:Gene Rearrangement; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D010641:Phenotype