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

doi:10.1093/humrep/des014

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

Department of Clinical Genetics

25 Citations (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.

Original language	English
Journal	Human Reproduction
Volume	27
Issue number	4
Pages (from-to)	1223-6
Number of pages	4
ISSN	0268-1161
DOIs	https://doi.org/10.1093/humrep/des014
Publication status	Published - 2012

Keywords

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

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10.1093/humrep/des014

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title = "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",

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.",

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T2 - evidence of the need for coordinated, long-term communication of health information among relevant parties

AU - Callum, P

AU - Messiaen, L M

AU - Bower, P V

AU - Skovby, F

AU - Iger, J

AU - Timshel, S

AU - Sims, C A

AU - Falk, R E

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

KW - California

KW - Genetic Counseling

KW - Humans

KW - Male

KW - Medical Records

KW - Mosaicism

KW - Neurofibromatosis 1

KW - Risk Assessment

KW - Sequence Deletion

KW - Spermatozoa

KW - Tissue Donors

U2 - 10.1093/humrep/des014

DO - 10.1093/humrep/des014

M3 - Journal article

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SN - 0268-1161

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SP - 1223

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JO - Human Reproduction

JF - Human Reproduction

IS - 4

ER -

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

Abstract

Keywords

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