[A case of 3q21-qter trisomy and 3p25-pter monosomy syndrome].
A new case of chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome is reported in a girl born to a mother carrier of a pericentric inversion inv (3) (p25 q21). The patient shows several clinical features that can be well superimposed to those previously described.
D007446:Chromosome Inversion; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy
Un caso di sindrome da trisomia 3q21 leads to qter e monosomia 3p25 leads to pter.