Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations. Issue 4 (April 1998)

• Record Type: Journal Article
• Authors: Glass, I A; Stormer, P; Oei, P T; Hacking, E; Cotter, P D
• Is Part Of: Journal of medical genetics. Volume 35:Issue 4(1998)
• Page Start: 319
• Page End: 322
• Publication Date: 1998-04
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.35.4.319
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46, XX, der(8), ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy.