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Updated: Jun 17, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication

Raymond A Clarke1, Zhi Ming Fang, Ashish D Diwan

  • 1St George Clinical School, Faculty of Medicine, St George Hospital, University of NSW, Kogarah, NSW 2217, Australia.

Case Reports in Medicine
|January 14, 2010
PubMed

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Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
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Nondisjunction

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Nondisjunction01:29

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