A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation.
A family with autosomal reciprocal translocation t(4;13) (q25;a31) with a sibship comprising 2 children with unbalanced karyotypes, der(13) partial trisomy 4q, 1 child with the balanced translocation, and 2 abortions were studied. The segregation risk of unbalanced derivation in reciprocal translocations is discussed. The clinical picture of the 2 children with partial trisomy 4q is compared with similar cases.
D002648:Child; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D007223:Infant; D008540:Meiosis; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy