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Keywords:

  • chromosome 4;
  • duplication;
  • triplication;
  • 4q32.1–q32.2;
  • Hirschsprung disease

Abstract

Duplications of 4q31-qter have been rarely documented; moreover, triplications at this chromosomal region have never been described. Here we report a family through two generations (mother and three sons) with triplication of 4q32.1–q32.2. Their characteristic features include: macrocephaly, a long midface, hypoplastic zygoma, wide nasal bridge, short nose, downslanting and small palpebral fissures, and small, low-set and squared-off ears. Among the three sons, two had Hirschsprung disease, and one had constipation at birth. The phenotype of triplication of 4q32.1–q32.2 appeared to be distinct from duplications of 4q31-qter. © 2009 Wiley-Liss, Inc.