精氨酸琥珀酸尿和银罗素综合征的7号染色体单亲二体。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2022-09-12 DOI:10.1038/s41439-022-00211-y

Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara

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引用次数: 1

摘要

我们描述了一位以精氨酸琥珀酸尿和银罗素综合征(SRS)为表现的患者。SRS是由7号染色体单亲二体(UPD(7)mat)引起的。UPD(7)研究还揭示了7号染色体上ASL的母系遗传剪接变异，导致精氨酸琥珀酸尿的发生。本病例的表型比以前的病例更严重，表明精氨酸琥珀酸尿症和SRS的组合存在表型变异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.

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Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.

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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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks