4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations

AbstractDuplications 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.

4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations Journal Articles