Association of D/D translocations with fetal wastage and aneuploidy. A report of four families. Issue 5 (October 1976)

• Record Type: Journal Article
• Authors: Fernhoff, P M; Singh, D N; Hanson, J; Trusler, S; Dumont, C R; Chen, A T
• Is Part Of: Journal of medical genetics. Volume 13:Issue 5(1976)
• Page Start: 389
• Page End: 393
• Publication Date: 1976-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.13.5.389
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Four families are described with a t(13q14q) segregating. Two of them were identified through index cases with Down's syndrome; their karotypes revealed the unusual 46, XY, -13, -14, +t(13q14q), +21. The other two families were identified through a chromosomal study of parents with repeated spontaneous abortions. Analysis of data on 3 of these 4 families and on 7 other from the published reports showed no evidence of increased fetal wastage among 13/14 carriers. However, the risk of producing offspring with various types of aneuploidy may be greater among carriers than among persons with a normal chromosome pattern. Qualitative and quantitative differences in D/D translocations may account for the observed variation in clinical findings. These differences add to the problem of determining genetic risks from an analysis of grouped data.