Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation.
An 18 month-old boy with partial duplication of the long arm of chromosome 2, based on a paternal balanced translocation, 46,XY,ins (12,2)( q23;q33q37), is described and compared with five previously reported cases. These children have in common a short nose with broad flat bridge and small anteverted nostrils, long upper lip, low-set ears, and minor digital anomalies.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002875:Chromosomes; D002900:Chromosomes, Human, 1-3; D003878:Dermatoglyphics; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy