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Germline 16p11.2 microdeletion predisposing to neuroblastoma: A Case report
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  • Elizabeth Corley,
  • James Campbell,
  • Deborah Tweedle,
  • Sally George,
  • Michael Hubank,
  • Louis Chesler,
  • Jeremy Pryce,
  • Helen Hanson,
  • Muriel Holder-Espinasse,
  • Debbie Hughes,
  • Sucheta Vaidya,
  • Paola Angelini
Elizabeth Corley
Royal Marsden Hospital NHS Trust

Corresponding Author:[email protected]

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James Campbell
Institute of Cancer Research (ICR), London
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Deborah Tweedle
Newcastle University
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Sally George
The Royal Marsden Hospital
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Michael Hubank
The Institute of Cancer Research
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Louis Chesler
ICR
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Jeremy Pryce
St George's University Hospitals NHS Foundation Trust
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Helen Hanson
St George's Healthcare NHS Trust
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Muriel Holder-Espinasse
Guy's and St Thomas' Hospitals NHS Trust
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Debbie Hughes
The Institute of Cancer Research
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Sucheta Vaidya
Royal Marsden Hospital Sutton
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Paola Angelini
Royal Marsden Hospital Sutton
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Abstract

Familial neuroblastoma is an extremely rare entity with only 1 – 2% of neuroblastoma cases thought to have a familial inheritance, mainly due to PHOX2B and ALK germline mutations. 16p11.2 microdeletion syndrome has been reported to be associated with neuroblastoma. We present the first case report of a patient presenting with metastatic neuroblastoma, developmental delay, and atypical facies, in whom we identified an inherited germline 16p11.2 microdeletion.