Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome. Issue 2 (April 1978)

• Record Type: Journal Article
• Authors: Mattei, J F; Mattei, M G; Coignet, J; Giraud, F
• Is Part Of: Journal of medical genetics. Volume 15:Issue 2(1978)
• Page Start: 154
• Page End: 157
• Publication Date: 1978-04
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.15.2.154
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.