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.
Division of Cancer Services, St. George Hospital, Sydney NSW, Australia.
R A
RA
Clarke
S
S
Singh
H
H
McKenzie
J H
JH
Kearsley
M Y
MY
Yip
D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D007714:Klippel-Feil Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree