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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1995 Dec;57(6):1364–1370.

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

R A Clarke 1, S Singh 1, H McKenzie 1, J H Kearsley 1, M Y Yip 1
PMCID: PMC1801422  PMID: 8533765

Abstract

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.

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Selected References

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