Fragile site at 12q13 associated with phenotypic abnormalities.
A dysmorphic 3 year old boy with severe psychomotor retardation is described. His karyotype was 45,XY,t(13q;14q)rob, fra (12q13). The relationship between fra(12q13) and the clinical picture is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D014178:Translocation, Genetic