Unbalanced karyotype with normal phenotype in a family with translocation (8;13)(p21;q22).
We describe a family with translocation (8;13) (p21;q22), in which both unbalanced products of adjacent-1 segregation occurred. Two members of the family have partial trisomy 8p with partial monosomy 13q; two others have partial monosomy 8p with partial trisomy 13q. The latter are both phenotypically normal, which is a highly unusual observation. One of these is, in addition, a carrier of a de novo balanced translocation between chromosomes 2 and 19. The risk for unbalanced progeny is discussed.
D000293:Adolescent; D000328:Adult; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D010808:Physical Examination; D014178:Translocation, Genetic; D014314:Trisomy