Complex chromosome rearrangements are only rarely seen in constitutional karyotypes. A case of prenatally detected trisomy 9p with trisomy 10p originating from adjacent segregation of a maternal complex chromosome rearrangement is reported. Ultrasound examination at 18 weeks of gestation showed cleft lip palate, club feet, structural anomalies of the cerebellum and cystic kidneys. Cytogenetic analysis of amnion cells revealed a female fetus with 47,XX,+der(9). FISH analyses together with parental karyotyping demonstrated the fetal additional chromosome to originate from malsegregation of a maternal complex chromosomal rearrangement. The mother is carrier of a balanced translocation t(4;10;9) (q12; p11;q13). Postmortem examination of the fetus showed nose anomalies, cleft lip palate, low set ears, club feet, lung anomalies, cystic kidney and aplasia of the uterus. Reporting of such rare cases is important in order to enable this information to be used for genetic counselling in similar situations.

Keywords:
Prenatal diagnosis, Complex chromosome rearrangement, Trisomy 9p, Trisomy 10p, FISH analysis
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© 2002 S. Karger AG, Basel
2002
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