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.