Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)

We report on a fetus and a newborn, both with partial trisomy 7q21 --> qter due to different familial translocations, t(7;21)(q21.2;p12) and t(4;7)(q3 5;q21.2). Postmortem examination of the 19-week-old female fetus disclosed dysmorphic features, cleft palate, anomalies of the great vessels, intestin al malrotation and uterus bicornis. The newborn girl revealed a pattern of minor anomalies, cleft palate, cerebellar hypoplasia, and anomalies of panc reas, gall bladder and appendix. The clinical findings in three other repor ted fetuses with partial trisomy 7q described so far are reviewed. A duplic ation 7q21 --> qter, as found in the propositi, has only been described in 11 patients who all had a concurrent partial monosomy. Patient 1 is particu larly interesting since she is, to our knowledge, the first reported case w ith pure trisomy 7q21/22 --> qter, We reviewed the phenotype of the previou sly described patients, compared it with the propositae, and summarized the clinical features of pure trisomy 7q21/22 --> qter. Copyright (C) 2001 Joh n Wiley & Sons, Ltd.