Article
A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis.
Clinical genetics - 1 Jun 1991
Maraia R, Saal H M, Wangsa D
Abstract excerpt
The campomelic syndrome is a skeletal dysplasia with a characteristic pattern of deformity involving the proximal and distal extremities, pelvic and shoulder girdles, thoracic cage and palate. Respiratory compromise often leads to death in early infancy. Etiology has not been determined although evidence suggests genetic heterogeneity in patients with campomelia. Cytogenetic analysis in the past have revealed an...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Disorders
- Chromosome Inversion
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Collagen
- Female
- Genes, Homeobox
- Genes, Recessive
- Humans