B. Sikkemaraddatz et al., PRENATAL-DIAGNOSIS IN 2 CASES OF DE-NOVO COMPLEX BALANCED CHROMOSOMALREARRANGEMENTS - 3-YEAR FOLLOW-UP IN ONE CASE, Prenatal diagnosis, 15(5), 1995, pp. 467-473
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 a
nd fluorescent in situ hybridization (FISH). In one case four chromoso
mes and in the other case three chromosomes were involved in the rearr
angements. One of the pregnancies was terminated and no external or in
ternal abnormalities were detected at autopsy. The other pregnancy con
tinued to term. Level III ultrasound examination showed no abnormaliti
es. The child is now 3 years old and has neither congenital anomalies
nor evidence of delayed psychomotor development.