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

Am J Hum Genet. 1995 Dec;57(6):1364-70.


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.

MeSH terms

  • Chromosome Inversion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 8 / genetics*
  • Female
  • Humans
  • Karyotyping
  • Klippel-Feil Syndrome / genetics*
  • Male
  • Pedigree