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Inherited 14q duplication and 21q deletion: A rare adjacent-2 segregation in multiple family members

Authors

  • Bhavana J. Dave,

    Corresponding author
    1. Human Genetics Laboratory, Munroe Meyer Institute for Genetics and Rehabilitation, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska
    • University of Nebraska Medical Center, 985440 Nebraska Medical Center, Omaha, NE 68198-5440.
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  • Ann Haskins Olney,

    1. Human Genetics Laboratory, Munroe Meyer Institute for Genetics and Rehabilitation, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska
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  • Dianna H. Zaleski,

    1. Human Genetics Laboratory, Munroe Meyer Institute for Genetics and Rehabilitation, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska
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  • Diane L. Pickering,

    1. Human Genetics Laboratory, Munroe Meyer Institute for Genetics and Rehabilitation, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska
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  • Troy A. Becker,

    1. Human Genetics Laboratory, Munroe Meyer Institute for Genetics and Rehabilitation, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska
    Current affiliation:
    1. Division of Genetics, All Children's Hospital, St. Petersburg, FL.
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  • Hope E. Chipman,

    1. Human Genetics Laboratory, Munroe Meyer Institute for Genetics and Rehabilitation, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska
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  • Warren G. Sanger

    1. Human Genetics Laboratory, Munroe Meyer Institute for Genetics and Rehabilitation, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska
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  • How to cite this article: Dave BJ, Olney AH, Zaleski DH, Pickering DL, Becker TA, Chipman HE, Sanger WG. 2009. Inherited 14q duplication and 21q deletion: A rare adjacent-2 segregation in multiple family members. Am J Med Genet Part A 149A:2248–2253.

Abstract

We present a family with multiple carriers of a subtle balanced translocation t(14;21)(q21.2;q21.2) and three patients with a resultant adjacent-2 malsegregation containing a +der(14)t(14;21)(q21.2;q21.2),-21 in their chromosome complement. The initial study was performed when a 2-month-old female was referred to genetics clinic for evaluation of developmental delay, growth retardation, and failure to thrive. Physical findings included prominent eyes, micrognathia, prominent and simple external ears, camptodactyly, contractures of the wrists, ankles, and hips, hypoplasia of the corpus callosum, prominent atria and occipital horns, cerebellopontine hypoplasia; and small atrial septal defect. High resolution chromosomes showed an extra band on the proximal 21q and fluorescence in situ hybridization (FISH) demonstrated only one signal for the centromere of 21. Karyotypes of the parents and grandparents revealed that the mother and maternal grandfather were carriers of a balanced translocation, and the propositus contained an unbalanced chromosome complement with partial duplication of proximal 14q and partial deletion of proximal 21q. Investigations performed on an institutionalized maternal aunt revealed identical karyotypic abnormalities as in the propositus. More recently, array comparative genomic hybridization (aCGH) on a subsequent child with multiple congenital anomalies further out in the extended family allowed for more accurate identification of the breakpoints. Our investigation includes analysis on a total of 11 family members spanning three generations. Among those investigated, there were no living members with other possible consequential unbalanced translocations or with adjacent-2 segregation resulting in −14,+der(21). Chromosome rearrangements require FISH and aCGH studies for accurate identification and elucidation of the abnormality and breakpoints. © 2009 Wiley-Liss, Inc.

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