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Updated: Feb 17, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

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遺伝的エニグマの解読: 発達遅延と9q重複の先天性異常に関するケーススタディが,包括的な全エクソームシーケンシングと細胞遺伝分析によって明らかにされました

Reyhaneh Dehghanzad1,2, Mohsen Aghajanpour Mir1,2, Zahra Golchehre2

  • 1Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Iranian journal of child neurology
|February 16, 2026
PubMed
まとめ

Whole Exome Sequencing (WES) は,先天性異常 (CA) や知的障害 (ID) を有する新生児のコピー番号変異 (CNV) を効果的に検出します. この遺伝子検査のアプローチは,初期分析で見逃された複雑な症例の診断に役立ちます.

キーワード:
kongenital anomalies 生まれながらの異常についてコピー番号のバリエーション コピー番号のバリエーション発達遅延 発達遅延知的障害とは,知的障害である.全エクソームシーケンシング

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