作者: Reuben Matalon , Peggy Supple , Herman Wyandt , Ira M. Rosenthal
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摘要: We report on a family with transmission of ring chromosome 14 from an affected mother to her 2 sons. The was mosaic, 46,XX,r(14)/45,XX,t(14q21q). Both sons, by seizures and mental retardation, have the karyotype 46,XY,r(14). In considering association translocation 14:21 in 14, we postulate that either formed first then opened partially deleted 21, or present first, chromosomes 21 broke apart, ring. published literature cases is reviewed.