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Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype

Authors

  • Anne Frühmesser,

    1. Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
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  • Edda Haberlandt,

    1. Clinical Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria
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  • Werner Judmaier,

    1. Clinical Department of Radiology II, Innsbruck Medical University, Innsbruck, Austria
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  • Albert Schinzel,

    1. Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
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  • Barbara Utermann,

    1. Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
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  • Martin Erdel,

    1. Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
    Current affiliation:
    1. Laboratory for Molecular Biology and Tumorcytogenetics, Department of Internal Medicine, Hospital of the Sisters of Charity, Linz, Austria.
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  • Christine Fauth,

    1. Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
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  • Gerd Utermann,

    1. Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
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  • Johannes Zschocke,

    1. Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
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  • Dieter Kotzot

    Corresponding author
    1. Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
    • Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Schoepfstr. 41, A-6020 Innsbruck, Austria.
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  • How to Cite this Article: Frühmesser A, Haberlandt E, Judmaier W, Schinzel A, Utermann B, Erdel M, Fauth C, Utermann G, Zschocke J, Kotzot D. 2012. Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype. Am J Med Genet Part A. 158A:2239–2244.

Abstract

Exact breakpoint determination by DNA-array has dramatically improved the analysis of genotype–phenotype correlations in chromosome aberrations. It allows a more exact definition of the most relevant genes and particularly their isolated or combined impact on the phenotype in an unbalanced state. Here, we report on a 21-year-old female with severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, various minor facial dysmorphisms, and a telomeric deletion of about 4.4 Mb in 7q36.2->qter combined with a telomeric duplication of about 8 Mb in 17pter->p13.1. Fine mapping was achieved with the Illumina® Infinium HumanOmni1-Quad v1.0 BeadChip. Most of the major clinical features correspond to the well-known effects of haploinsufficiency of the MNX1 and SHH genes. In addition, review of the literature suggests an association of the 17p duplication with specific facial dysmorphic features and skeletal anomalies, but also an aggravating effect of the duplication-deletion for severe growth retardation as well as sacral and corpus callosum hypoplasia by one or more genes located on the proximal half of the segmental 17p duplication could be elaborated by comparison with other patients from the literature carrying either the deletion or the duplication found in our patient. © 2012 Wiley Periodicals, Inc.

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