Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature. Issue 2 (April 1977)

• Record Type: Journal Article
• Authors: Simpson, J; Zellweger, H
• Is Part Of: Journal of medical genetics. Volume 14:Issue 2(1977)
• Page Start: 124
• Page End: 127
• Publication Date: 1977-04
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.14.2.124
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A case of partial trisomy 14 (47, + 14q-) is presented. The proband's mother had a balanced translocation of 14q with the long arm of a No. 3 chromosome. Clinical and cytogenetic findings of this case are compared with 5 other cases of 47, + 14q-, in which one parent had a balanced translocation of the distal part of the No. 14 long arm to another chromosome. It appears that this chromosomal aneuploidy produces a fairly typical clinical picture.