Trisomy 9 mosaicism in a child with a tethered cord.
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.
Lindor
N M
NM
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA.
Michels
V V
VV
Jalal
S
S
Shaughnessy
W
W
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