A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23).
A male infant with multiple congenital abnormalities and global retardation was found to have a translocation resulting in partial trisomy for the distal end of the long arm of chromosome 3. The phenotypically normal father carried a balanced reciprocal translocation between chromosomes 3 and 17.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D002902:Chromosomes, Human, 16-18; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy