Familial trisomy 9p and spinal muscular atrophy: clinical, cytogenetic and embryological findings.
The pre- and postnatal clinical, cytogenetic and embryological findings in a family suffering from trisomy 9p and spinal muscular atrophy are presented. The clinical picture of the "trisomy 9p" -syndrome is delineated. Concurrence of autosomal aberration and spinal muscular atrophy, probably of the Werdnig-Hoffmann type, is discussed.
D000028:Abortion, Induced; D000649:Amniocentesis; D000870:Anterior Horn Cells; D001344:Autopsy; D002675:Child, Preschool; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005333:Fetus / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy