Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant. Issue 1 (January 1993)

• Record Type: Journal Article
• Authors: Dixon, J W; Costa, T; Teshima, I E
• Is Part Of: Journal of medical genetics. Volume 30:Issue 1(1993)
• Page Start: 70
• Page End: 72
• Publication Date: 1993-01
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.30.1.70
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : We report the clinical findings in a boy with mosaicism for a duplication of chromosome 12q13.1-->q24.2. His clinical characteristics are very similar to previously reported mosaic duplications of the distal long arm of 12, as well as several cases with non-mosaic duplications. It is proposed that this represents a clinically distinguishable syndrome for 12q duplication, in mosaic or non-mosaic form.