Translocation (13q21q). Four generation family study with analysis of satellite associations, fluorescent markers, and prenatal diagnosis.
A (13q21q) translocation was found in an infant with Down's syndrome. The 17-year-old mother and the grandmother carried the translocation 45,XX,t(13;21)(p12;q11). The great grandparents had normal karyotypes. Fluorescence marker studies suggested that the translocation originated in the great grandmother. The hypothesis was supported by satellite association studies which showed a significant excess of 13-21 and 13-15 associations in the great grandmother.
Amniocentesis↗