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A mildly retarded woman with 46,XX/47,XX,+18 mosaicism

1985; Wiley; Volume: 22; Issue: 2 Linguagem: Inglês

10.1002/ajmg.1320220218

1096-8628

Jeannette T. Bensen, Mark W. Steele, John M. Opitz, James F. Reynolds,

Genetic and rare skin diseases.

Abstract We describe a mildly retarded woman with trisomy 18 mosaicism. The phenotype did not suggest trisomy 18, but the mild mental retardation, asymmetric face with bushy eyebrows and thick lips, short stature, and older maternal age raised the suspicion of a chromosomal cause for her condition.