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

P Callum, L M Messiaen, P V Bower, F Skovby, J Iger, S Timshel, C A Sims, R E Falk

23 Citationer (Scopus)

Abstract

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.
OriginalsprogEngelsk
TidsskriftHuman Reproduction
Vol/bind27
Udgave nummer4
Sider (fra-til)1223-6
Antal sider4
ISSN0268-1161
DOI
StatusUdgivet - 2012

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