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Updated: Jan 13, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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7q11.23コピー数変異の出生前診断：後向き症例シリーズ

Jiong Yan1, Ziyang Liu2, Song Yi3

  • 1Department of Administration Office, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Molecular genetics & genomic medicine
|January 6, 2026
PubMed
まとめ

ウィリアムズ・ビュレン症候群（WBS）の出生前診断には、様々な超音波異常を示すコピー数変異（CNV）が関与する。WBSの正確な診断とカウンセリングには、遺伝子検査と遺伝解析が不可欠である。

キーワード:
7q11.23微細欠失SNPアレイウィリアムズ・ビュレン症候群遺伝出生前カウンセリング出生前超音波検査

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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