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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties

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Screening of gamete donors can reduce but cannot eliminate the risks for medical problems in donor-conceived offspring. We present a case of gonosomal mosaicism discovered in an anonymous sperm donor after receiving two reports of neurofibromatosis type 1 (NF1) in donor-conceived offspring, to illustrate that long-term, systematic investigation of health issues in donors and offspring can be invaluable to the welfare of these individuals.
Original languageEnglish
JournalHuman Reproduction
Volume27
Issue number4
Pages (from-to)1223-6
Number of pages4
ISSN0268-1161
DOIs
Publication statusPublished - 2012

    Research areas

  • California, Genetic Counseling, Humans, Male, Medical Records, Mosaicism, Neurofibromatosis 1, Risk Assessment, Sequence Deletion, Spermatozoa, Tissue Donors

ID: 36819477