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Abstract:
A 20-week-old foetus with 8p trisomy, as the unbalanced product of a maternal 7q/8p translocation (karyotype: 46,XX,t(7;8)(q34,p12) is reported. Internal malformations include agenesis of the gall-bladder, left heart hypoplasia and pancreas annulare. Moreover, histologic examination revealed a "neuroblastoma in situ". The possible etiologic relationship between the neuroblastoma and the chromosomal abnormality is briefly discussed.