title: Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes.
authors.affiliation: Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain. lfernandez.hulp@salud.madrid.org
authors.forename: Luis
authors.initials: L
authors.lastname: Fernández
authors.forename: Julián
authors.initials: J
authors.lastname: Nevado
authors.forename: María L
authors.initials: ML
authors.lastname: De Torres
authors.forename: Elena
authors.initials: E
authors.lastname: Mansilla
authors.forename: Elena
authors.initials: E
authors.lastname: Vallespín
authors.forename: Sixto
authors.initials: S
authors.lastname: García-Miñaúr
authors.forename: Rebeca
authors.initials: R
authors.lastname: Palomo
authors.forename: Lucía
authors.initials: L
authors.lastname: Deirós
authors.forename: Marta
authors.initials: M
authors.lastname: Cabrera
authors.forename: Elia Dina
authors.initials: ED
authors.lastname: Galo
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
authors.forename: Alicia
authors.initials: A
authors.lastname: Delicado
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy