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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3).

Klippel-Feil Syndrome ( KFS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the embryo's developing axis. KFS appears to be a heterogeneous disease often associated with craniofacial malformation. Here we provide the first evidence of a familial KFS gene locus on 8q, where an inv(8)(q22.2q23.3) has been found segregating with congenital vertebral fusion. The four-generation KF2-01 family present with dominant form of the KFS where the sequence of vertebral fusion was confined to the cervical spine (always including the C2-3 fusion and reduced expression of the C4-5 and C6-7 fusions) in association with malformation of laryngeal cartilages and mild-to-severe vocal impairment.[1]


  1. Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). Clarke, R.A., Singh, S., McKenzie, H., Kearsley, J.H., Yip, M.Y. Am. J. Hum. Genet. (1995) [Pubmed]
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