Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment.
A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, the infant had features of both 2q+ and 11q- syndromes. The importance of considering both the duplicated and deleted segment in unbalanced products resulting from familial translocations is emphasized.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007621:Karyotyping; D009006:Monosomy; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy