The dup(3q) syndrome: report of eight cases and review of the literature.

  title={The dup(3q) syndrome: report of eight cases and review of the literature.},
  author={Peter Steinbach and W N Adkins and H Caspar and Kenneth W Dumars and Judith Gebauer and Enid F. Gilbert and Tiemo Grimm and Manfred Habedank and Ingo Hansmann and J{\"u}rgen Herrmann and Elisabeth G. Kaveggia and Ulrich Langenbeck and Lorraine Faxon Meisner and T M Najafzadeh and John M Opitz and Catherine G. Palmer and Hanno Peters and Walter Scholz and Amandio S. Tavares and Claus Wiedeking},
  journal={American journal of medical genetics},
  volume={10 2},
Clinical and cytogenetic examinations were performed on eight unrelated infants with duplication of part of the long arm of chromosome 3. A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, down-turned corners of the mouth, highly arched or… CONTINUE READING
32 Citations
0 References
Similar Papers


Publications citing this paper.
Showing 1-10 of 32 extracted citations

Similar Papers

Loading similar papers…