title: Simultaneous trisomy 10q24 leads to qter and monosomy 4p16: an example of epistasis at the chromosome level.
abstract: A family with a reciprocal translocation (4;10)(p16;q24) leading to a simultaneous 10q24 leads to qter trisomy and partial 4p16 monosomy in two females (niece and aunt) is described. Comparative analysis with previously reported cases corroborates a distinctive dysmorphic syndrome due to the 10q24 leads to qter trisomy whose phenotypical expression is dominant over that of the 4p16 monosomy and those produced by other partial monosomies. This phenomenon is interpreted as epistasis at the chromosome level.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations; D002905:Chromosomes, Human, 4-5; D002906:Chromosomes, Human, 6-12 and X; D004843:Epistasis, Genetic; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy