Evaluation for germline mosaicism in sperm donors following diagnosis of dominant disorders in donor-conceived offspring

K Baldwin, P Callum - Fertility and Sterility, 2019 - fertstert.org
… the same donor. While the cases investigated in this study did not identify any evidence …
gonadal mosaicism, routine evaluation of DNA from sperm cells may help to identify mosaicism

[HTML][HTML] A case of germline mosaicism for a 7q32. 1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations

C Chalas, A Receveur, N Frydman, N Massin… - Basic and Clinical …, 2020 - Springer
donor, we confirmed the presence of a germline mosaicism in his spermatozoa. This finding
highlights the importance of germline mosaicism … the context of sperm donation, particularly …

Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

MW Breuss, X Yang, V Stanley, J McEvoy-Venneri… - Elife, 2022 - elifesciences.org
… Here, we demonstrate that gonadal mosaic mutations detected in sperm from individual …
the presence of gonadal mosaic mutations identified in one sperm donor in the blastocysts of the …

… OF GERMLINE MOSAICISM, NON-PENETRANT DISEASE, AND MORE FOLLOWING DIAGNOSIS OF AUTOSOMAL DOMINANT DISORDERS IN DONOR …

J Park, J Luque, M Cahr, K Baldwin, P Callum - Fertility and Sterility, 2022 - fertstert.org
… ular testing on DNA from semen samples is a significant limitation in the assessment of
germline mosaicism. IMPACT STATEMENT: Germline mosaicism and undiagnosed disease are …

Clinical presentations of 23 half‐siblings from a mosaic neurofibromatosis type 1 sperm donor

C Ejerskov, S Farholt, F Skovby… - Clinical …, 2016 - Wiley Online Library
… and 1 Icelandic offspring of donor number 7042 of whom … sperm donor with gonosomal
mosaicism for a NF1 deletion. To allow future follow-up, we have initiated The International Donor

Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant …

P Callum, LM Messiaen, PV Bower, F Skovby… - Human …, 2012 - academic.oup.com
mosaicism discovered in an anonymous sperm donor after receiving two reports of
neurofibromatosis type 1 (NF1) in donor-… a significant risk for gonadal mosaicism until the second …

[PDF][PDF] Developmental and temporal characteristics of clonal sperm mosaicism

X Yang, MW Breuss, X Xu, D Antaki, KN James… - Cell, 2021 - cell.com
… We found that gonadal mosaic variants showed significantly distinct mutational patterns (Figures
4B, S5A, and S5B; STAR Methods). For instance, C > G and T > C were depleted in all …

[HTML][HTML] Sperm chromosome analysis and outcome of IVF in patients with non-mosaic Klinefelter's syndrome

J Levron, A Aviram-Goldring, I Madgar, G Raviv… - Fertility and sterility, 2000 - Elsevier
… among infertile males undergoing ICSI as compared to fertile donors (16). In other study we
demonstrated a linkage between gonadal failure (high serum FSH levels) and an increased …

Sperm mosaicism predicts transmission of de novo mutations to human blastocysts

MW Breuss, X Yang, V Stanley, J McEvoy-Venneri… - bioRxiv, 2022 - biorxiv.org
… Here, we demonstrate that gonadal mosaic mutations detected in sperm from individual …
the presence of gonadal mosaic mutations identified in one sperm donor in the blastocysts of the …

[HTML][HTML] De novo mutations, genetic mosaicism and human disease

M Mohiuddin, RF Kooy, CE Pearson - Frontiers in genetics, 2022 - frontiersin.org
… within an individual is termed as germline mosaicism. Germline mosaicism is a driving force
behind … Undoubtedly, this process may additionally be appropriate to sperm donor clinics. …