title: Prenatal diagnosis and molecular cytogenetic characterization of an unusual complex structural rearrangement in a pregnancy following intracytoplasmic sperm injection (ICSI).
abstract: We report on a balanced complex chromosomal aberration detected in a fetus after amniocentesis. The pregnancy was achieved after intracytoplasmic sperm injection. GTG-banding revealed a complex structurally rearranged karyotype with a translocation between chromosomes 5 and 15 and an additional paracentric inversion in the der(15) between bands 5q11.2 and 5q15. Ag-NOR staining showed an interstitial active nuclear organizer region in the der(15). Molecular cytogenetic analyses using whole-chromosome-painting probes, comparative genomic hybridization, and multicolor banding did not point to further structural aberrations or imbalances. Therefore, a complex rearrangement with three breakpoints has occurred, and the karyotype can be described as 46,XX,der(5)t(5;15) (q11.2;p12),der(15)t(5;15)(q11.2;p12)inv(5)(q11.2q15).
authors.affiliation: Institut für Humangenetik, Charité Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. marc.trimborn@charite.de
authors.forename: M
authors.initials: M
authors.lastname: Trimborn
authors.forename: T
authors.initials: T
authors.lastname: Liehr
authors.forename: B
authors.initials: B
authors.lastname: Belitz
authors.forename: L
authors.initials: L
authors.lastname: Pfeiffer
authors.forename: R
authors.initials: R
authors.lastname: Varon
authors.forename: H
authors.initials: H
authors.lastname: Neitzel
authors.forename: H
authors.initials: H
authors.lastname: Tönnies
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D020223:Chromosome Painting; D005260:Female; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D020554:Sperm Injections, Intracytoplasmic; D014178:Translocation, Genetic