Trisomy 5p: a second case occurring in a previously described kindred. Issue 2 (April 1984)

• Record Type: Journal Article
• Authors: Vowles, M; McDermott, A; Janota, I
• Is Part Of: Journal of medical genetics. Volume 21:Issue 2(1984)
• Page Start: 144
• Page End: 146
• Publication Date: 1984-04
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.21.2.144
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A second child with trisomy 5p has been born in the kindred reported by Brimble-combe et al. The cytogenetic findings were similar to those of the index case except that the derivation was paternal instead of maternal. Improved banding techniques enabled more accurate designation of the breakpoints. The clinical and necropsy findings are described. Three non-specific phenotypic malformations and one brain abnormality, possibly specific, were common to both.