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Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case |
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| Authors: | B. Sikkema-Raddatz R. H. Sijmons M. B. Tan-Sindhunata A. Y. Van Der Veen R. Brunsting B. De Vries J. R. Beekhuis D. J. Bekedam B. Van Aken B. De Jong |
| Affiliation: | 1. Department of Medical Genetics, University of Groningen, Groningen, The Netherlands;2. Department of Obstetrics and Gynaecology, Academic Hospital Groningen, Groningen, The Netherlands;3. Department of Obstetrics and Gynaecology, Flevo Hospital, Almere, The Netherlands |
| 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 abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development. |
| Keywords: | de novo complex balanced rearrangements follow-up prenatal diagnosis FISH counselling |