8p trisomy in a malformed foetus.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005333:Fetus; D006801:Humans; D007621:Karyotyping; D009447:Neuroblastoma / Q000473:pathology; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy