[Trisomy 6 with choanal atresia. The first Italian case].
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.
Jacob
R
R
Azienda OIRM Sant'Anna, Torino.
Priolo
C
C
Farina
D
D
Gomirato
G
G
D002754:Choanal Atresia / Q000150:complications* / Q000175:diagnosis*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D014314:Trisomy / Q000235:genetics*