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A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry
Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,532
Minerva Pediatrica 1999 June;51(6):213-6
Trisomy 6 with choanal atresia. The first italian case
Jacob R., Priolo C., Farina D., Gomirato G.
The authors report the first Italian case (second in the world) of partial trisomy syndrome of chromosome 6. All the essential signs were present, in addition to choanal atresia, reported only once before in Italy. The phenomenological picture of this extremely rare anomaly is in the process of being completed by successive reports.