title: Acrocentric/18p translocation in two mentally retarded males. Delineation of the adult phenotype.
abstract: In this report we describe two adult male patients with a chromosomal rearrangement involving the short arm of chromosome 18 and an acrocentric chromosome. In addition to moderate mental retardation and verbal disability they presented dysmorphic stigmata similar to those found in the Noonan syndrome.
mesh_terms: D000328:Adult; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic