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

Authors

  • Jia-Chi Wang,

    Corresponding author
    1. Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada
    2. Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    • Cytogenetics Laboratory, McMaster University Medical Centre, 1200 Main Street West, Room 3N19, Hamilton, Ontario, Canada L8S 4J9.
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  • Thomas Fisker,

    1. Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada
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  • Linda Dang,

    1. Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada
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  • Ikuko Teshima,

    1. Cytogenetics Laboratory, Pediatric Laboratory Medicine, Hospital for the Sick Children, Toronto, Ontario, Canada
    2. Pediatrics, University of Toronto, Toronto, Ontario, Canada
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  • Małgorzata J.M. Nowaczyk

    1. Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    2. Clinical Genetics Service, McMaster University Medical Centre, Ontario, Canada, Canada
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  • How to cite this article: Wang J-C, Fisker T, Dang L, Teshima I, Nowaczyk MJM. 2009. 4.3-Mb triplication of 4q32.1–q32.2: Report of a family through two generations. Am J Med Genet Part A 149A:2274–2279.

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.

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