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 | Zendy

Pamela Callum | Zendy; Ludwine Messiaen | Zendy; P. V. Bower | Zendy; Flemming Skovby | Zendy; Jennifer Iger | Zendy; Susanne Timshel | Zendy; Charles A. Sims | Zendy; Rena E. Falk | Zendy

Open Access

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

Author(s) -

Pamela Callum,

Ludwine Messiaen,

P. V. Bower,

Flemming Skovby,

Jennifer Iger,

Susanne Timshel,

Charles A. Sims,

Rena E. Falk

Publication year - 2012

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/des014

Subject(s) - offspring , multiplex ligation dependent probe amplification , sperm , biology , genetics , gene , pregnancy , exon

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.

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