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Familial interstitial deletion of the short arm of chromosome 4 (p15.33–p16.3) characterized by molecular cytogenetic analysis

Authors

  • Audrey Basinko,

    1. Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    2. Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France
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  • Nathalie Douet-Guilbert,

    1. Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    2. Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France
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  • Philippe Parent,

    1. Service de Pédiatrie et Génétique Médicale, CHU Morvan, Brest, France
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  • Gilles Blondin,

    1. Service de Pédiatrie, CH Laennec, Quimper, France
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  • M. Mingam,

    1. Centre d'Action Médico-Sociale Précoce, CH Laennec, Quimper, France
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  • Françoise Monot,

    1. Service de Gynécologie, CH Laennec, Quimper, France
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  • Frédéric Morel,

    1. Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    2. Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France
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  • Marie-Josée Le Bris,

    1. Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
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  • Marc De Braekeleer

    Corresponding author
    1. Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    2. Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France
    • Laboratoire de Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, 22, avenue Camille Desmoulins, CS 93837, F-29238 Brest Cedex 3, France.
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  • How to cite this article: Basinko A, Douet-Guilbert N, Parent P, Blondin G, Mingam M, Monot F, Morel F, Le Bris M-J, De Braekeleer M. 2008. Familial interstitial deletion of the short arm of chromosome 4 (p15.33–p16.3) characterized by molecular cytogenetic analysis. Am J Med Genet Part A 146A:899–903.

Abstract

This 15-month boy was expressed at the cytogenetic laboratory because of psychomotor development delay. He was tall and had plagiocephaly, micrognathia, high nasal bridge, anteverted nostrils and pectus excavatum. A 46,XY,del(4)(p16.1p16.3) karyotype was found using high-resolution R-banding technique. FISH studies using the LSI Wolf–Hirschhorn dual color 4p16.3 and the TelVysion 4p probes showed no deletion. Using BACs, the distal breakpoint was located in 4p16.3, between RP11-165K4 and RP11-717M10 and the proximal breakpoint in 4p15.33, between RP11-74M11 and RP11-1J7; therefore, approximately 7.96 Mb of the short arm were deleted. The maternal karyotype showed the same deletion, but in a mosaic status. Two distinct phenotypes have been recognized on the basis of the chromosomal bands involved in 4p deletion: the Wolf–Hirschhorn syndrome (WHS) and a proximal 4p deletion syndrome (4p15.2–p15.32). Our observation confirms that the basic WHS phenotype maps distally to this region. © 2008 Wiley-Liss, Inc.

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