Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three‐year follow‐up in one case

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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)467-473
Number of pages7
JournalPrenatal Diagnosis
Issue number5
Publication statusPublished - 1 Jan 1995

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