A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis.
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 unexpectedly high incidence of a 46, XY karyotype in phenotypic females. We report here on a patient with a typical case of campomelic dysplasia in whom a de novo paracentric inversion of chromosome 17q was identified. Review of the genetic map of the inverted region identified potential "structural" genes including the Hox-2-homeobox gene and the collagen gene, COLIA1, which may be involved in the pathogenesis of campomelic syndrome.
Laboratory of Molecular Growth Regulation, National Institute of Child Health and Human Development, Bethesda, Maryland.
R
R
Maraia
H M
HM
Saal
D
D
Wangsa
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics / Q000473:pathology; D002869:Chromosome Aberrations / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D003094:Collagen / Q000235:genetics; D005260:Female; D005801:Genes, Homeobox / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010009:Osteochondrodysplasias / Q000151:congenital / Q000209:etiology / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome; D013796:Thanatophoric Dysplasia / Q000209:etiology / Q000235:genetics / Q000473:pathology
D003094:Collagen