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Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2

Authors

  • Nabeel J.M. Salem,

    1. Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität, München, Germany
    Current affiliation:
    1. Department of Pediatrics, Salmaniya Medical Complex, Salmaniya, Kingdom of Bahrain
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  • Maja Hempel,

    1. Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität, München, Germany
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  • Katrin-Janine Heiliger,

    1. Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität, München, Germany
    2. Gyn-Gen-Lehel, München, Germany
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  • Stuart Hosie,

    1. Department of Pediatric Surgery, Städtisches Klinikum Schwabing, München, Germany
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  • Thomas Meitinger,

    1. Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität, München, Germany
    2. Institute of Human Genetics, Helmholtz Center Munich, Neuherberg, Germany
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  • Konrad Oexle

    Corresponding author
    • Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität, München, Germany
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Correspondence to:

PD Dr. Konrad Oexle, Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Trogerstr. 32, 81675 München, Germany. E-mail: oexle@humangenetik.med.tum.de

Abstract

A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5 Mb microdeletion of chromosome region 3q26.32–3q26.33 (chr. 3: 178,598,162–182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia. © 2013 Wiley Periodicals, Inc.

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