title: Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case.
abstract: We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.
authors.affiliation: Department of Medical Genetics, University of Groningen, The Netherlands.
authors.forename: B
authors.initials: B
authors.lastname: Sikkema-Raddatz
authors.forename: R H
authors.initials: RH
authors.lastname: Sijmons
authors.forename: M B
authors.initials: MB
authors.lastname: Tan-Sindhunata
authors.forename: A Y
authors.initials: AY
authors.lastname: van der Veen
authors.forename: R
authors.initials: R
authors.lastname: Brunsting
authors.forename: B
authors.initials: B
authors.lastname: de Vries
authors.forename: J R
authors.initials: JR
authors.lastname: Beekhuis
authors.forename: D J
authors.initials: DJ
authors.lastname: Bekedam
authors.forename: B
authors.initials: B
authors.lastname: van Aken
authors.forename: B
authors.initials: B
authors.lastname: de Jong
mesh_terms: D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008423:Maternal Age; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis