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Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes

Authors

  • Luis Fernández,

    Corresponding author
    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain
    2. CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
    • Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain.
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  • Julián Nevado,

    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain
    2. CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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  • María L. De Torres,

    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain
    2. CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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  • Elena Mansilla,

    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain
    2. CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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  • Elena Vallespín,

    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain
    2. CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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  • Sixto García-Miñaúr,

    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain
    2. CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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  • Rebeca Palomo,

    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain
    2. CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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  • Lucía Deirós,

    1. Servicio de Cardiología Infantil, Hospital Universitario La Paz, Madrid, Spain
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  • Marta Cabrera,

    1. Servicio de Neonatología, Hospital Universitario La Paz, Madrid, Spain
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  • Elia Dina Galo,

    1. Universidad Nacional Autónoma de Nicaragua, León, Nicaragua
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  • Pablo Lapunzina,

    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain
    2. CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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  • Alicia Delicado

    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain
    2. CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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  • The authors declare that they have no conflict of interest with the work reported.

  • How to Cite this Article: Fernández L, Nevado J, De Torres ML, Mansilla E, Vallespín E, García-Miñaúr S, Palomo R, Deirós L, Cabrera M, Galo ED, Lapunzina P, Delicado A. 2012. Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes. Am J Med Genet Part A 158A: 2963–2968.

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