title: The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies.
authors.forename: Céline
authors.initials: C
authors.lastname: de La Rochebrochard
authors.forename: Géraldine
authors.initials: G
authors.lastname: Joly-Hélas
authors.forename: Alice
authors.initials: A
authors.lastname: Goldenberg
authors.forename: Isabelle
authors.initials: I
authors.lastname: Durand
authors.forename: Annie
authors.initials: A
authors.lastname: Laquerrière
authors.forename: Valentine
authors.initials: V
authors.lastname: Ickowicz
authors.forename: Pascale
authors.initials: P
authors.lastname: Saugier-Veber
authors.forename: Danièle
authors.initials: D
authors.lastname: Eurin
authors.forename: Hélène
authors.initials: H
authors.lastname: Moirot
authors.forename: Alain
authors.initials: A
authors.lastname: Diguet
authors.forename: Fabrice
authors.initials: F
authors.lastname: de Kergal
authors.forename: Coralie
authors.initials: C
authors.lastname: Tiercin
authors.forename: Bertrand
authors.initials: B
authors.lastname: Mace
authors.forename: Loïc
authors.initials: L
authors.lastname: Marpeau
authors.forename: Thierry
authors.initials: T
authors.lastname: Frebourg
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy