A new case of dup(3q) syndrome due to a pure duplication of 3qter.

@article{Faas2002ANC,
  title={A new case of dup(3q) syndrome due to a pure duplication of 3qter.},
  author={Brigitte Henrica Wilhelmina Faas and Bert B A de Vries and J W M Van Es-Van Gaal and Gerard F. M. Merkx and Jos M Th Draaisma and Dominique Fcm Smeets},
  journal={Clinical genetics},
  year={2002},
  volume={62 4},
  pages={
          315-20
        }
}
The characteristic clinical features of the dup(3q) syndrome include typical facial features, mental and growth retardation, and (often) congenital heart anomalies. However, pure duplication of 3qter is rare because most of the reported cases are patients who carry an unbalanced translocation and, in addition to the duplication for 3qter, have a deletion for another chromosomal segment. A new case with a pure duplication of 3q detected in a 2-month-old boy is presented here. Extensive… CONTINUE READING
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