title: Partial trisomy 12q: clinical and cytogenetic observations.
abstract: High resolution chromosome banding showed a male infant with profound mental retardation, hypertonia and multiple congenital anomalies to have the karyotype 46,XY,-der (2),t(2;12)(q37.3;q24.13)pat. Most of the clinical findings were compatible with those of the previously described cases with partial trisomy 12q. Some of the clinical features seem to disappear with increasing age.
mesh_terms: D002648:Child; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014314:Trisomy