At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation. Issue 1 (January 1997)

• Record Type: Journal Article
• Authors: Smeets, D; van Ravenswaaij, C; de Pater, J; Gerssen-Schoorl, K; Van Hemel, J; Janssen, G; Smits, A
• Is Part Of: Journal of medical genetics. Volume 34:Issue 1(1997)
• Page Start: 18
• Page End: 23
• Publication Date: 1997-01
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.34.1.18
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Carriers of balanced reciprocal translocations may have a (high) risk for producing liveborn children with an unbalanced karyotype. We report a large family in which a translocation between the long arm of chromosome 11 and the short arm of chromosome 13 is segregating in at least five generations. During the course of our study 15 carriers of the balanced translocation were identified and nine cases of partial trisomy of the long arm of chromosome 11 were detected during pre- and postnatal studies. Several of the patients were thoroughly clinically examined and compared with similar published cases.