FAMILIAL KLIPPEL-FEIL SYNDROME AND PARACENTRIC INVERSION INV(8)(Q22.2Q23.3)

Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral f usion believed to result from faulty segmentation along the embryo's d eveloping axis. KFS appears to be a heterogeneous disease often associ ated with craniofacial malformation. Here we provide the first evidenc e 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-gene ration KF2-01 family present with a dominant form of the KFS where the sequence of vertebral fusion was confined to the cervical spine (alwa ys including the C2-3 fusion and reduced expression of the C4-5 and C6 -7 fusions) in association with malformation of laryngeal cartilages a nd mild-to-severe vocal impairment.