Association of D/D translocations with fetal wastage and aneuploidy. A report of four families.
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.
D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D005313:Fetal Death; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014178:Translocation, Genetic