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在一个产前贝克维思-维德曼病例中,通过微阵列和光学基因组映射检测出并列三倍化11p15.5-ICR1 (H19/IGF2)

Elisabet Lloveras1, Cristina Pérez1, Begoña Mendez1

  • 1Departamento de Genética, Laboratorio Central Barcelona, SYNLAB International Group, Barcelona, Spain.

Cytogenetic and genome research
|June 27, 2023
PubMed
概括

光学基因组映射 (OGM) 检测到染色体11p15.5的三倍化,有助于诊断贝克威思-维德曼综合征 (BWS). 这种先进的工具通过识别高分辨率的结构变体来增强产前护理.

关键词:
贝克维特 - 维德曼通过光学基因组映射进行了基因组映射.三倍数 11p15.5 的三倍数.

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