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Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.
Hattori, Atsushi; Okuyama, Torayuki; So, Tetsumin; Kosuga, Motomichi; Ichimoto, Keiko; Murayama, Kei; Kagami, Masayo; Fukami, Maki; Fukuhara, Yasuyuki.
Afiliação
  • Hattori A; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan. hattori-a@ncchd.go.jp.
  • Okuyama T; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, 157-8535, Japan.
  • So T; Department of Pediatrics and Clinical Genomics, Saitama Medical University, Saitama, 350-0495, Japan.
  • Kosuga M; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, 157-8535, Japan.
  • Ichimoto K; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, 157-8535, Japan.
  • Murayama K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba, 266-0007, Japan.
  • Kagami M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba, 266-0007, Japan.
  • Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
  • Fukuhara Y; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
Hum Genome Var ; 9(1): 32, 2022 Sep 12.
Article em En | MEDLINE | ID: mdl-36097158
We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat). UPD(7)mat also unmasked a maternally inherited splicing variant in ASL on chromosome 7, leading to the onset of argininosuccinic aciduria. The phenotype of the present case was more severe than that of a previous case, demonstrating a phenotypic variation in the combination of argininosuccinic aciduria and SRS.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Genome Var Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Genome Var Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão