title: Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.
abstract: A phenotypically female fetus with campomelic dysplasia and a de novo reciprocal translocation, 46,XY,t(2;17) (q35;q23-24), is presented. This is the second case of campomelic dysplasia in which a rearrangement involving the long arm of chromosome 17 has been identified, indicating that this is likely to be the site of the campomelic dysplasia locus.
authors.affiliation: Department of Clinical Genetics, City Hospital, Nottingham.
authors.forename: I D
authors.initials: ID
authors.lastname: Young
authors.forename: J M
authors.initials: JM
authors.lastname: Zuccollo
authors.forename: E L
authors.initials: EL
authors.lastname: Maltby
authors.forename: N J
authors.initials: NJ
authors.lastname: Broderick
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17; D002889:Chromosomes, Human, Pair 2; D012734:Disorders of Sex Development; D005333:Fetus / Q000473:pathology; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic