Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3)
- Prince of Wales, Sydney (Australia); and others
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 a 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. 32 refs., 4 figs., 1 tab.
- OSTI ID:
- 186206
- Journal Information:
- American Journal of Human Genetics, Vol. 57, Issue 6; Other Information: PBD: Dec 1995
- Country of Publication:
- United States
- Language:
- English
Similar Records
Paternal adjacent I segregation of an insertional translocation results in partial 4q monosomy and 4q trisomy in two siblings
Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings