title: Partial distal 12q trisomy.
abstract: Two profoundly mentally retarded sisters with partial trisomy for the distal part of the long arm of chromosome 12 (12q24 leads to 12qter) are described. Their anomaly arose as a segregation product of a balanced t(12q-; 17q+) translocation in the mother. Both patients display a similar craniofacial dysmorphism, but lack gross internal or external malformations.
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy