title: 22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.
abstract: We report on a patient conceived via in vitro fertilization (IVF) with a 22q11.2 deletion due to an unusual unbalanced translocation involving chromosomes 6 and 22 in a karyotype with 45 chromosomes. Cytogenomic studies showed that the patient has a 3.3-Mb deletion of chromosome 22q and a 0.4-Mb deletion of chromosome 6p, which resulted in haploinsufficiency of the genes responsible for the 22q11.2 deletion syndrome and also of the IRF4 gene, a member of the interferon regulatory factor family of transcription factors, which is expressed in the immune system cells. The rearrangement could be due to the manipulation of the embryo or as a sporadic event unrelated to IVF. Translocation involving chromosome 22 in a karyotype with 45 chromosomes is a rare event, with no previous reports involving chromosomes 6p and 22q.
authors.affiliation: Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil.
authors.forename: Anelisa
authors.initials: A
authors.lastname: Gollo Dantas
authors.affiliation: Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil; Cytogenetics Division, Hospital do Servidor Público do Estado de São Paulo, São Paulo, Brazil.
authors.forename: Adriana
authors.initials: A
authors.lastname: Bortolai
authors.affiliation: Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil.
authors.forename: Mariana
authors.initials: M
authors.lastname: Moysés-Oliveira
authors.affiliation: Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil.
authors.forename: Sylvia
authors.initials: S
authors.lastname: Takeno Herrero
authors.affiliation: Hospital das Clínicas, Universidade Federal de Pernambuco, Recife, Brazil.
authors.forename: Adriana
authors.initials: A
authors.lastname: Azoubel Antunes
authors.affiliation: Division of Allergy, Clinical Immunology and Rheumatology, Universidade Federal de São Paulo, Brazil.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Tavares Costa-Carvalho
authors.affiliation: Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil.
authors.forename: Vera
authors.initials: V
authors.lastname: Ayres Meloni
authors.affiliation: Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil.
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Melaragno
keywords: Deletion syndrome 22q11.2; IRF-4 transcription factor; In vitro fertilization