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hrp0089rfc15.2 | Growth and syndromes | ESPE2018

Molecular and Clinical Analyses of Two UPD(16)mat Patients Detected by Screening of 94 Silver-Russell Syndrome Patients without Known Etiology

Inoue Takanobu , Yagasaki Hideaki , Nishioka Junko , Nakamura Akie , Matsubara Keiko , Narumi Satoshi , Nakabayashi Kazuhiko , Yamazawa Kazuki , Fuke Tomoko , Oka Akira , Ogata Tsutomu , Fukami Maki , Kagami Masayo

Background: Maternal uniparental disomy of chromosome 16 (UPD(16)mat) is defined as the presence of two homologous chromosomes 16 inherited from only the mother. To our knowledge, 49 live-born UPD(16)mat patients without chromosomal abnormalities other than that in chromosome 16 have been reported. UPD(16)mat patients presented with non-specific clinical features such as preterm birth, growth retardation, congenital heart diseases (CHDs) and hypospadias. Silver-Russell syndrom...

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Molecular and Clinical Analyses of Two UPD(16)mat Patients Detected by Screening of 94 Silver-Russell Syndrome Patients without Known Etiology

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