De novo complex chromosomal rearrangement (CCR) in a severely mentally retarded boy.
A severely mentally retarded boy with a de novo, apparently balanced complex chromosomal rearrangement (CCR) of autosomes 2, 14 and 21 is described. This rearrangement involved one reciprocal and one insertional translocation with four breakpoints found at 2p11 ; 14q11 , 14q13 and 21q11 .
D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure*; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic