title: Trisomy 9 mosaicism in a child with a tethered cord.
abstract: A two and a half-year-old girl was diagnosed with trisomy 9 mosaicism that was detected in 22% of skin fibroblasts but was not evident in blood. This child manifests some clinical features not previously reported in trisomy 9 mosaicism including a thoracic syringomyelia and a tethered cord due to an extradural lipoma with intradural involvement. DNA analysis showed that she did not have uniparental disomy in her dominant disomic cell line.
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: N M
authors.initials: NM
authors.lastname: Lindor
authors.forename: V V
authors.initials: VV
authors.lastname: Michels
authors.forename: S
authors.initials: S
authors.lastname: Jalal
authors.forename: W
authors.initials: W
authors.lastname: Shaughnessy
mesh_terms: D002675:Child, Preschool; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D016136:Spina Bifida Occulta / Q000097:blood / Q000235:genetics*; D014314:Trisomy