Human Cytogenetics

Submitted: Wednesday 4th of August 2010 04:51:50 PM
Submitted by: egf
Language: English
Educational levels: expert, qc1, qc2, qc3

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Abstract

This resource contains materials from advanced courses of cytogenetics and it is especially focused on Clinical Cytogenetics

Resources

Whole-genome array revealed at least 10% of cryptic causative imbalances in patients with mental retardation. It seems plausible that the use of array platforms at higher resolution results in higher percentage of causative imbalances. Recent studies have demonstrated that cryptic deletions/duplicat ...
Aneuploid states cause recognizable clinical syndromes that are named after their discoverer (Down syndrome, Wolf-Hirschhorn syndrome etc), after their main clinical symptoms (velacardiofacial syndrome, cri-du-chat syndrome) or after their localization in the genome (1p36 deletion syndrome, 22q11 de ...
Aneuploid states cause recognizable clinical syndromes that are named after their discoverer (Down syndrome, Wolf-Hirschhorn syndrome etc), after their main clinical symptoms (velacardiofacial syndrome, cri-du-chat syndrome) or after their localization in the genome (1p36 deletion syndrome, 22q11 de ...
Genomic disorders account for several constitutional chromosome rearrangements, both recurrent and sporadic, Some LCR (in total 5% of the human genome) are hot hot spots for NAHR Cryptic paracentric inversions may be frequent in our genome and play a role in the formation of gross rearrangements
Genomic disorders were defined by James R. Lupski as rearrangements resulting from genome architecture or specifically as DNA rearrangements owing to nonallelic homologous recombination involving region- specific, low copy repeats (for reviews see Lupski JR [1998] Trends in Genetics 14:417-422 and ...
Genomic disorders account for several constitutional chromosome rearrangements, both recurrent and sporadic, Some LCR (in total 5% of the human genome) are hot hot spots for NAHR Cryptic paracentric inversions may be frequent in our genome and play a role in the formation of gross rearrangeme ...
Genomic disorders were defined by James R. Lupski as rearrangements resulting from genome architecture or specifically as DNA rearrangements owing to nonallelic homologous recombination involving region-specific, low copy repeats (for reviews see Lupski JR [1998] Trends in Genetics 14:417-422 and St ...
Non-random, constitutional abnormalities of 22q include duplications associated with the supernumerary bisatellited marker chromosome of CES, translocations that give rise to the recurrent t(11;22) malsegregation-derived +der(22) syndrome and the translocations or deletions associated with DiGeorg ...
Non-random, constitutional abnormalities of 22q include duplications associated with the supernumerary bisatellited marker chromosome of CES, translocations that give rise to the recurrent t(11;22) malsegregation-derived +der(22) syndrome and the translocations or deletions associated with DiGeorge ...
A lecture on clinical cytogenetics
Sex reversal: chromosomal sex differs from phenotypic sex (usually discovered at puberty) Ambiguous external genitalia Is the new baby a boy, or a girl? One out of every two thousand births presents with a gender dilemma
Clinical cytogenetics
A lecture about CLINICAL CYTOGENETICS by O. Zuffardi from 2006
Genomic imprinting is the selective inactivation of one parent – specific gene or chromosome region during development or permanently. It plays an important yet still not fully understood role during embryogenesis. Later in postnatal life, it accounts for growth regulation including tumour develop ...
Genomic imprinting is the selective inactivation of one parent – specific gene or chromosome region during development or permanently. It plays an important yet still not fully understood role during embryogenesis. Later in postnatal life, it accounts for growth regulation including tumour develop ...
An introduction to the study of Human Cytogenetics
An introduction to the study of Human Cytogenetics
On 2003 it had been solemnly announced that the human genome project was ended with the 99% of the genome that had been sequenced at an accuracy of 99.9%. The solemnity of the announcement was due to the fact that, having sequenced the genome of few individuals, the scientists thought to have in the ...
On 2003 it had been solemnly announced that the human genome project was ended with the 99% of the genome that had been sequenced at an accuracy of 99.9%. The solemnity of the announcement was due to the fact that, having sequenced the genome of few individuals, the scientists thought to have in the ...
Array based chromosomal genomic hybridisation (array CGH) has dramatically increased the level of resolution for detection of DNA copy number alterations. Further challenges now emerge through the simultaneous availability of transcriptome, miRNAome and epigenome profiles. One particular daunting ta ...
Array based chromosomal genomic hybridisation (array CGH) has dramatically increased the level of resolution for detection of DNA copy number alterations. Further challenges now emerge through the simultaneous availability of transcriptome, miRNAome and epigenome profiles. One particular daunting ta ...

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Keywords

abnormal, acentric, Acquired immunodeficiency syndrome, adenomatous polyposis coli, affected, allele, alpha, Analysis of the entire coding region: Mutation scanning, Analysis of the entire coding region: Sequence analysis, aneuploidy, antibody, antigen, apoptosis, Array genomic hybridization, association, association studies, autism, autoimmune disease, autosomal, autosomal dominant, autosomal recessive, autosome, azoospermia, bacterial artificial chromosome, balanced translocation, band, base, base pair, beta, bioinformatics, biomarker, candidate gene, carrier, cell, cell division, cell line, centromere, chiasma, chorionic villus sampling, chromatin, chromosome, chromosome abnormality, cis configuration, clone, coding region, coding sequence, common disease, confined placental mosaicism, congenital, conjugation, constitutional, contiguous gene syndrome, copy number polymorphism, correlation, cosmid, critical region, Cytogenetic Abnormality, Cytogenetic Analysis, cytogenetics, de novo, deletion, deoxyribonucleic acid, derivative chromosome, diagnostic test, dicentric, diploid, disomy, dispermy, disruption, DNA methylation, dna polymorphisms, dna replication, dna sequencing, duplication, dysmorphic feature, dysplasia, egg, embryo, enhancer, enzyme, euchromatin, exon, expectation maximization algorithm, expression, familial, familial adenomatous polyposis, fertilisation, fetus, fitness, fixed, fluorescent in situ hybridization, frameshift, frequency, gain-of-function, gamete, gametogenesis, gene, gene expression, gene locus, gene regulation, genetic counselling, genetic marker, genetic variation, genetics, genome, genome wide association, genomic dna, genomic imprinting, genomics, genotype, germ cell, haploinsufficiency, haplotype, hemizygous, heredity, hermaphrodite, heterogeneous, heteromorphism, heterozygous, homologous, homologous chromosome, homologous recombination, homozygous, hormone, hotspot, human genome project, Human immunodeficiency virus, hybridization, immunohistochemistry, implantation, imprinting, in vitro, incidence, indels, informative, inheritance, inherited, insertion, interphase, interstitial deletion, intron, inv, inversion, isochromosome, karyotype, kilobase, library, ligation, linkage, linkage disequilibrium, locus, locus control region, malformation, marker, marker chromosome, maternal, meiosis, messenger rna, metabolism, metaphase, methylation, microarray, microdeletion, microdeletion syndrome, microsatellite, miscarriage, mitosis, modifier gene, monosomy, mosaic, mosaicism, multifactorial, mutant, mutation, natural selection, non-disjunction, nondisjunction, nonsense mutation, nucleotide, nullisomy, oligonucleotide, oncogenic, pachytene, paracentric inversion, parental, penetrance, phenotype, point mutation, polymerase chain reaction, polymorphism, population, power, predisposition, prenatal diagnosis, primer, probability, proband, probe, processing, promoter, prophase, prostate, protein, pseudoautosomal, pseudogene, quantitative, rearrangement, recessive, recessive allele, recessive gene, reciprocal translocation, recombination, regression, replication, ring chromosome, Robertsonian translocation, s phase of the cell cycle, satellite, screening, segmental, segmental duplication, segregation, selection, sensitivity, sequence, sex chromosome, sex-determining region of the y, sib, silencer, single nucleotide polymorphism, sister chromatids, somatic cell, somatic mosaicism, sperm, splicing, spontaneous abortion, sporadic, substitution, survival, switching, synapsis, synaptonemal complex, syndrome, telomere, tetrasomy, trait, transcript, transformation, transgenic, translocation, trisomy, unaffected, unbalanced translocation, unequal crossing over, uniparental disomy, uniparental disomy study, uniparental heterodisomy, uniparental isodisomy, uterus, variant, variation, virus, x-chromosome, x-inactivation, y-chromosome

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