Notes in LE009 DNA Diagnostics: Principles of Cytogenetics and Genome Analysis

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Status	Last Update	Fields
Published	10/04/2024	Deletions result in {{c1::partial}} monosomy for lost segment.Deletions can be {{c1::Terminal}} (end of chromosome) or {{c1::interstitial}} (along chr…
Published	10/04/2024	Giemsa banding:{{c1:: 300 - 400 bands}}Reverse banding:{{c2:: heat treatment, reverse the pattern in R-banding. For distal ends of chromosomes}}High-r…
Published	10/04/2024	Basic Types of Genetic DiseaseChromosomal: Effects of {{c1::many contiguous genes}}Single gene: {{c1::One gene with a major effect}}Multifactorial: {{…
Published	10/04/2024	Cytogenetic location: Xp22.3{{c1::X}} chromosome{{c1::p}} armRegion {{c1::2}}Band {{c1::2}}Sub-band {{c1::3}}
Published	10/04/2024	Locus specific probes - bind to {{c1::specific region}} of chromosomesKey question: {{c1::Is gene there or not?}}Alphoid or centromeric repeat probes …
Published	10/04/2024	FISH is TARGETED and employs a {{c1::fluorescently labeled probe}} to detect and localize the presence or absence of a {{c1::specific D…
Published	10/04/2024	Duplication copy number analysis:{{c1::New values}} generated because of new possible genotypes in area of duplication
Published	10/04/2024	What do the allele peaks and copy number tracks look like for deletions?
Published	10/04/2024	Uniparental disomy: inheriting {{c1::2}} copies of chromosomes from one parent and {{c1::no}} copies from the other parentMechanis…
Published	10/04/2024	Robertsonian (nonreciprocal) translocations: {{c1::fusion of 2 acrocentric chromosomes}}Resulting karyotype has {{c1::45}} chromosomes
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