[Prenatal diagnosis of a de novo trisomy case 9q-47,XX,+9 del(q33----qter)].
A case of de novo trisomy 9q- (deletion q33----qter) in utero diagnosed is reported. Features of this syndrome are described, compared with those of trisomy 9p et total trisomy 9. The possibility of prenatal diagnosis and the similarity of some features with nail-patella syndrome are focused.
D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000473:pathology; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy
Diagnostic prénatal d'un cas de trisomie de novo 9q-47, XX, +9 del(q33----qter).