cytogenetic disorders numeric abnormalities structural abnormalities
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Cytogenetic DisordersCytogenetic Disorders
Numeric AbnormalitiesNumeric AbnormalitiesStructural AbnormalitiesStructural Abnormalities
Numeric AbnormalitiesNumeric Abnormalities
EuploidEuploid– DiploidDiploid– PolypoidPolypoid
AneuploidAneuploid– MonosomyMonosomy– TrisomyTrisomy
MosaicismMosaicism
Structural AbnormalitiesStructural Abnormalities
Cytogenetic Disorders Involving Cytogenetic Disorders Involving AutosomeAutosome
Trisomy 21 (Down Syndrome)Trisomy 21 (Down Syndrome)
Chromosome 22q11 Deletion Chromosome 22q11 Deletion SyndromeSyndrome
Velocardiofacial syndromeVelocardiofacial syndrome
DiGeorge syndromeDiGeorge syndrome
Fluorescence In Situ Fluorescence In Situ Hybridization (FISH)Hybridization (FISH)
Accompanied by karyotyping to increase the Accompanied by karyotyping to increase the power of cytogenetic analysispower of cytogenetic analysis
Fluorescence In Situ Fluorescence In Situ Hybridization (FISH)Hybridization (FISH)
Advantages of FISHAdvantages of FISH– Number of chromosomes in interphaseNumber of chromosomes in interphase
DNA probes that recognize chromosome-specific DNA probes that recognize chromosome-specific sequencessequences
– Subtle microdeletionsSubtle microdeletions 22q11 deletion syndrome22q11 deletion syndrome
– Complex translocationsComplex translocations
FISHFISH
Cytogenetic Disorders Involving Cytogenetic Disorders Involving Sex ChromosomesSex Chromosomes
Single-Gene Disorders with Single-Gene Disorders with Atypical Patterns of InheritanceAtypical Patterns of Inheritance
Triple Repeat MutationsTriple Repeat Mutations
Fragile X SyndromeFragile X Syndrome
CGG repeats:Normal around 29Premutation 52-230Full mutation 230-4000
Fragile X syndromeFragile X syndrome
FMR1 geneFMR1 gene FMR proteinFMR protein
– RNA-binding protein that RNA-binding protein that regulates protein regulates protein translationtranslation
Higher level of transcripts Higher level of transcripts in the brain and the testisin the brain and the testis
Leber hereditary optic Leber hereditary optic neuropathyneuropathy
Mutations in Mitochondrial Mutations in Mitochondrial GeneGene
Genomic ImprintingGenomic Imprinting
Farid A. Ardalan, MD, AP, CPFarid A. Ardalan, MD, AP, CP
azmoudeh@sina.tums.ac.irazmoudeh@sina.tums.ac.ir
IKMC:IKMC:
+98-21-919-2403+98-21-919-2403
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