Terminal deletion (14)(q32.3): a new case. Issue 4 (April 1990)

• Record Type: Journal Article
• Authors: Telford, N; Thomson, D A; Griffiths, M J; Ilett, S; Watt, J L
• Is Part Of: Journal of medical genetics. Volume 27:Issue 4(1990)
• Page Start: 261
• Page End: 263
• Publication Date: 1990-04
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.27.4.261
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A mildly dysmorphic, 2 year old girl with mental retardation was found to have a small de novo terminal deletion of the long arm of chromosome 14, del(14)(q32.3). She was found to have features in common with two previous terminal deletion cases and particularly with the well documented ring 14 syndrome, although seizures, a characteristic feature of ring 14, were notably absent.