Partial trisomy 12q: report of a case and review. Issue 6 (December 1981)

• Record Type: Journal Article
• Authors: Roberts, S H; Mattina, T; Laurence, K M; Sorge, G; Pavone, L
• Is Part Of: Journal of medical genetics. Volume 18:Issue 6(1981)
• Page Start: 470
• Page End: 473
• Publication Date: 1981-12
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.18.6.470
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are compared with those of four previously reported cases of partial trisomy 12q, two of which also appear to have pure trisomy of segment 12q24.1 leads to 12 qter.