Advanced Maternal Age and the Development of Prader-Willi Syndrome Resulting from Upd(15)mat through Non-disjunction at Meiosis 1

Mini Review

JMOR, 28(3) 96-102, 2011
DOI: 10.1274/jmor.28.96

Tsutomu Ogata¹* Keiko Matsubara^2,3 Eiko Nagata¹ Shinichiro Sano¹ Nobuyuki Murakami³ Toshiro Nagai³

¹Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka 431-3192, Japan
²Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan
³Dokkyo Medical University Koshigaya Hospital, Saitama 343-8555, Japan

Advanced maternal age at childbirth is a risk factor for the generation of trisomies such as Down syndrome because of the high frequency of non-disjunction at maternal meiosis 1. Thus, it is predicted that increased childbearing age is also relevant to the generation of maternal uniparental disomies caused by trisomy rescue or gamete complementation with a disomic oocyte produced through non-disjunction at maternal meiosis 1. Here, we report our molecular genetic data for 117 patients with Prader-Willi syndrome. The results indicate that advanced maternal age at childbirth is a predisposing factor for the development of maternal uniparental disomy 15 because of increased meiosis 1 errors. This notion is applicable to other maternal uniparental disomies as well, and provides useful insight into the occurrence of imprinting disorders after artificial reproductive technologies(ART). In particular, it is recommended to perform maternal age-matched comparison for the evaluation of the potential influence of ART on the development of maternal upd.

Keywords: Advanced maternal age Trisomy rescue Uniparental maternal disomy Prader-Willi syndrome Non-disjunction

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Vol.28 No.3