title: Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.
authors.affiliation: Abteilung Humangenetik, Universitätsklinikum Ulm, D-89073 Ulm, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Barbi
authors.forename: E
authors.initials: E
authors.lastname: Rossier
authors.forename: S
authors.initials: S
authors.lastname: Vossbeck
authors.forename: H
authors.initials: H
authors.lastname: Hummler
authors.forename: D
authors.initials: D
authors.lastname: Lang
authors.forename: F
authors.initials: F
authors.lastname: Flock
authors.forename: R
authors.initials: R
authors.lastname: Terinde
authors.forename: J
authors.initials: J
authors.lastname: Wirth
authors.forename: W
authors.initials: W
authors.lastname: Vogel
authors.forename: H
authors.initials: H
authors.lastname: Kehrer-Sawatzki
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007223:Infant; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013001:Somatoform Disorders / Q000000981:diagnostic imaging; D014463:Ultrasonography