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A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis
Author(s) -
Maraia Richard,
Saal Howard M.,
Wangsa Damrong
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03050.x
Subject(s) - chromosomal inversion , biology , genetics , dysplasia , sox9 , karyotype , chromosome , gene , gene expression
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 analyses 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, COLlAl, which may be involved in the pathogenesis of campomelic syndrome.