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Partial tetrasomy 14 associated with multiple malformations

Authors

  • Johanna Winberg,

    Corresponding author
    • Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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  • Kristina Lagerstedt Robinson,

    1. Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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  • Karin Naess,

    1. Department of Laboratory Medicine and Centre for Inherited Metabolic Diseases, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden
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  • Nicole Lesko,

    1. Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    2. Department of Laboratory Medicine and Centre for Inherited Metabolic Diseases, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden
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  • Rolf Wibom,

    1. Department of Laboratory Medicine and Centre for Inherited Metabolic Diseases, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden
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  • Agne Liedén,

    1. Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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  • Britt-Marie Anderlid,

    1. Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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  • Caroline Graff,

    1. Department of Neurobiology, Care Sciences and Society, KI-ADRC, KASPAC, Novum, Karolinska Institutet, Stockholm, Sweden
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  • Agneta Nordenskjöld,

    1. Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    2. Pediatric Surgery, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden
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  • Ann Nordgren,

    1. Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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  • Peter Gustavsson

    1. Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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  • The authors declared that they have no conflicts of interest.

Correspondence to:

Johanna Winberg, M.D., Deptartment of Molecular Medicine and Surgery, Center for Molecular Medicine, CMM 02, Karolinska University Hospital, 171 76 Stockholm, Sweden. E-mail: johanna.winberg@ki.se

Abstract

We report on an 8-year-old female patient with multiple malformations including bilateral cleft lip and palate, coloboma, and craniosynostosis. She presented with severe intellectual disability, seizures, and gastrointestinal dysfunction. Mitochondrial investigations in a muscle biopsy revealed reduced activity in complex I of the mitochondrial respiratory chain. Chromosome analysis and fluorescent in situ hybridization (FISH) studies showed an isodicentric marker chromosome 14 that was identified in all cells analyzed in peripheral blood lymphocytes and cultured fibroblasts. Parental chromosome studies were normal. To further characterize the marker chromosome and determine its origin, we performed array-based comparative genomic hybridization (CGH) and polymorphic marker analysis with quantitative fluorescent PCR (QF-PCR). The combined results from cytogenetic and array-CGH analyses showed tetrasomy 14p13q13.1 and results from the QF-PCR point to formation of the marker chromosome in the maternal meiosis. Isodicentric chromosomes involving partial 14q have previously been reported in four cases; however, this is the first patient with tetrasomy 14p13q13.1 in non-mosaic form surviving beyond infancy. © 2013 Wiley Periodicals, Inc.

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