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Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability

Authors

  • C. Tyson,

    Corresponding author
    1. Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada
    • Cytogenetics, Royal Columbian Hospital, 330 East Columbia Street, New Westminster, BC, Canada V3L 3W7.
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  • A.J. Dawson,

    1. Cytogenetics Laboratory, Division of Laboratory Medicine and Pathology, Health Sciences Centre, Winnipeg, Manitoba, Canada
    2. Section of Genetics & Metabolism, Department of Pediatrics and Child Health, Health Sciences Centre, Winnipeg, Manitoba, Canada
    3. Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
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  • S. Bal,

    1. Cytogenetics Laboratory, Division of Laboratory Medicine and Pathology, Health Sciences Centre, Winnipeg, Manitoba, Canada
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  • M. Tomiuk,

    1. Cytogenetics Laboratory, Division of Laboratory Medicine and Pathology, Health Sciences Centre, Winnipeg, Manitoba, Canada
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  • T. Anderson,

    1. Cytogenetics Laboratory, Division of Laboratory Medicine and Pathology, Health Sciences Centre, Winnipeg, Manitoba, Canada
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  • D. Tucker,

    1. Cytogenetics Laboratory, Division of Laboratory Medicine and Pathology, Health Sciences Centre, Winnipeg, Manitoba, Canada
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  • D. Riordan,

    1. Cytogenetics Laboratory, Division of Laboratory Medicine and Pathology, Health Sciences Centre, Winnipeg, Manitoba, Canada
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  • I. Chudoba,

    1. Metasystems, Altlussheim, Germany
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  • B. Morash,

    1. Cytogenetics Laboratory, Division of Laboratory Medicine and Pathology, Health Sciences Centre, Winnipeg, Manitoba, Canada
    2. Section of Genetics & Metabolism, Department of Pediatrics and Child Health, Health Sciences Centre, Winnipeg, Manitoba, Canada
    3. Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
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  • A. Mhanni,

    1. Section of Genetics & Metabolism, Department of Pediatrics and Child Health, Health Sciences Centre, Winnipeg, Manitoba, Canada
    2. Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
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  • A.E. Chudley,

    1. Section of Genetics & Metabolism, Department of Pediatrics and Child Health, Health Sciences Centre, Winnipeg, Manitoba, Canada
    2. Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
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  • B. McGillivray,

    1. Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
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  • M. Parslow,

    1. Cytogenetics Laboratory, Victoria General Hospital, Vancouver Island Health Authority, Victoria, British Columbia, Canada
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  • G. Rappold,

    1. Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany
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  • R. Roeth,

    1. Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany
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  • C. Fawcett,

    1. Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada
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  • Y. Qiao,

    1. Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada
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  • C. Harvard,

    1. Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada
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  • E. Rajcan-Separovic

    1. Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada
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  • How to cite this article: Tyson C, Dawson AJ, Bal S, Tomiuk M, Anderson T, Tucker D, Riordan D, Chudoba I, Morash B, Mhanni A, Chudley AE, McGillivray B, Parslow M, Rappold G, Roeth R, Fawcett C, Qiao Y, Harvard C, Rajcan-Separovic E. 2009. Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability. Am J Med Genet Part A 149A:490–495.

Abstract

We describe two males with intellectual disability (ID) and facial dysmorphism, both of whom have non-mosaic Y chromosome rearrangements resulting in deletions of large portions of the Y chromosome. Patient A, with ID, mild dysmorphism, speech delay, Duane anomaly of the eye, hypermetropia and conductive hearing loss, had two structurally rearranged Y chromosomes resulting in both p and q arm deletions in addition to a Yp duplication. Patient B, also with speech and language delay, developmental delay and short stature, had an interstitial deletion of Yq11.21–11.23. Array-CGH excluded the presence of additional submicroscopic rearrangements at the 1 Mb resolution level. A review of males with Y chromosome rearrangements and ID was performed. Our study provides a more detailed molecular cytogenetic assessment of Y rearrangements in individuals with ID than has been previously possible, and facilitates assessment and comparison of other individuals with a Y chromosome rearrangement. © 2009 Wiley-Liss, Inc.

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