Notes in d. Cytogenetics

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Published	07/28/2024	What are the most common chromosomal disorders (present in .5-1% of all live births)?
Published	07/28/2024	What is the most common monogenic disease?
Published	07/28/2024	The use of {{c1::peripheral}} blood {{c1::lymphocyte}} cultures was a major break-through in cytogenetic technology
Published	07/28/2024	After stimulating lymphocyte mitosis, why would cytogenetic researchers use mitotic inhibitors?
Published	07/28/2024	In cytogenetic research, mitotic inhibitors are used to induce {{c1::metaphase::mitotic phase}} arrest
Published	07/28/2024	After metaphase arrest is induced, why induce hypotonic swelling in blood lymphocytes?
Published	07/28/2024	Chromosome short arm = {{c1::p::letter}} armChromosome long arm = {{c1::q::letter}} arm
Published	07/28/2024	Where is centromere in metacentric chromosomes?
Published	07/28/2024	Where is centromere in submetacentric chromosomes?
Published	07/28/2024	Where is the centromere in acrocentric chromosomes?
Published	07/28/2024	There are {{c1::r}}RNA genes on the {{c2::satellite}} of acrocentric chromosomes
Published	07/28/2024	Why is loss of rRNA genes on satellite of acrocentric chromosomes not important?
Published	07/28/2024	Usefulness of light-dark banding within chromosomal arms?
Published	07/28/2024	What does it mean for a translocation to be balanced?
Published	07/28/2024	Fluorescence In Situ Hybridization (FISH) helps to determine the {{c1::location}} of specific {{c1::genetic}} information in a cell
Published	07/28/2024	FISH = {{c1::Fluorescence::name}} {{c2::in situ::name}} {{c1::Hybridization::name}}
Published	07/28/2024	First step in FISH:Labeling {{c1::probe}} with fluorescent tag
Published	07/28/2024	Second step in FISH:{{c1::Denature}} fluorescently-labeled probe
Published	07/28/2024	Third step in FISH:{{c1::hybridize}} denatured, fluorescently-labeled probe with target DNA
Published	07/28/2024	Types of FISH probes:{{c1::locus-specific}} probe{{c2::centromeric}} probe{{c1::chromosome-specific}} painting probe
Published	07/28/2024	Centromeric FISH probes will hybridize with specific {{c1::repeating}} sequences within centromeres
Published	07/28/2024	Function of a chromosome-specific painting probe?
Published	07/28/2024	In centromeric FISH probes, how are multiple chromosomes distinguished?
Published	07/28/2024	How do centromeric FISH probes aid in rapid genetic screening?
Published	07/28/2024	How are locus-specific FISH probes used diagnostically to detect deletions?
Published	07/28/2024	Methods for comparative genomic hybridization:aCGH = {{c1::array}}-based {{c1::comparative}} genomic hybridizationCMA = {{c2::chromosom…
Published	07/28/2024	Difference between FISH and methods of comparative genomic hybridization?
Published	07/28/2024	Methods of comparative genomic hybridization are great for determining gene {{c1::dosage}}
Published	07/28/2024	CMA does not detect:low level {{c1::mosaicism}}{{c2::inversions}}{{c1::balanced}} translocations{{c1::location}} of copy gains
Published	07/28/2024	Clinical utility of Chromosome Micro Array/Array based Comparative Genomic Hybridization?
Published	07/28/2024	Quantitative {{c1::PCR}} = 2° method to CMA/aCGH to determine gene dosage
Published	07/28/2024	{{c1::FISH}} can be used to determine if pathogenic variant detected in patient is also present in parents
Published	07/28/2024	If pathogenic gene variant isn't present in parents, it might be a {{c1::de novo}} mutation
Published	07/28/2024	CMA testing for {{c1::Copy Number Variants (CNV)}} is recommended as a first-line postnatal test for the following:{{c2::Multiple}} {{c2::Co…
Published	07/28/2024	Drawback to increased sensitivity of CMA is more {{c1::benign::type}} variants are found
Published	07/28/2024	VUS = variants of {{c1::uncertain}} {{c1::significance}}
Published	07/28/2024	Numerical chromosome abnormalities:{{c1::euploid}} = multiple of haploid number (N){{c1::aneuploid}} = {{c2::trisomy}} or {{c2::monosomy}}
Published	07/28/2024	Somatic abnormalities for a DS patient may vary based on {{c1::location}} of trisomy 21
Published	07/28/2024	Most aneuploidies are due to errors in {{c1::maternal::maternal/paternal}} {{c2::meiosis::mitosis/meiosis}}
Published	07/28/2024	Increasing maternal {{c1::age}} increases the risk of aneuploidies
Published	07/28/2024	Nondisjunction occurs during {{c1::anaphase}} of either meiosis I or II
Published	07/28/2024	When nondisjunction occurs in meiosis {{c2::II::I/II}}, genetic information around centromeres {{c1::remain the same::changes/remains t…
Published	07/28/2024	Why use SNP markers near the centromere to determine meiotic phase and parental origin of nondisjunction?
Published	07/28/2024	Balanced translocations are also called {{c1::reciprocal}} translocations
Published	07/28/2024	{{c2::Robertsonian}} translocations involve fusion of {{c1::acrocentric}} chromosomes
Published	07/28/2024	Why wouldn't CMA detect a reciprocal translocation?
Published	07/28/2024	Result of alternate segregation following reciprocal translocation?
Published	07/28/2024	Result of adjacent I segregation following reciprocal translocation?
Published	07/28/2024	Why would existence of parental balanced translocation increase risk for unbalanced offspring?
Published	07/28/2024	Why would CMA not be able to distinguish between DS resulting from Trisomy 21 and DS from translocation?
Published	07/28/2024	The risk of balanced translocation {{c1::is not::is/is not}} dependent on parental sex of carrier
Published	07/28/2024	The risk of Robertsonian translocation {{c1::is::is/is not}} dependent on parental sex of carrier
Published	07/28/2024	About 50% of spontaneous abortuses have {{c1::chromosomal}} abnormalities
Published	07/28/2024	Two types of inversions:{{c1::paracentric}} do not include centromere{{c2::pericentric}} includes the centromere, breaks on both chromosome arms, high…
Published	07/28/2024	{{c1::peri::para/peri}}centric inversions involve the centromere
Published	07/28/2024	Crossing over occurs in meiosis between {{c1::two}} {{c1::sister chromatids}} on different homologous chromosomes
Published	07/28/2024	What defines a copy number variation (CNV)?
Published	07/28/2024	{{c1::Segmental}} duplications create a substrate for homologous pairing and crossing over
Published	07/28/2024	Non-recurrent CNVs have a {{c1::paternal::maternal/paternal}} bias. It is predominatly due to {{c1::mitosis::mitosis/meiosis}} because …
Published	07/28/2024	What does it mean for particular CNVs to be recurrent?
Published	07/28/2024	Segmental duplications are also called {{c1::low number::name}} repeats
Published	07/28/2024	Recurrent CNVs predominantly occur in {{c1::females because of meiosis}}
Published	07/28/2024	Recurrent CNVs result from {{c1::non}}-allelic {{c1::homologous recombination (NAHR)}} between low copy repeats
Published	07/28/2024	{{c1::Charcot}}-{{c1::Marie}}-{{c1::Tooth}} disease usually results from an extra copy of the {{c2::PMP-22}} gene caused by {{c2::non-allelic hom…
Published	07/28/2024	Charcot Marie Tooth (CMT) disease causes {{c1::motor/sensory::type}} neuropathy and progressive muscle weakness and atrophy
Published	07/28/2024	On a CMA, a "B" allele refer to the {{c1::less::more/less}} common allele
Published	07/28/2024	On a CMA, what would a B allele frequency of zero signify?
Published	07/28/2024	On a CMA, {{c2::Log R}} would be {{c1::less::greater/less}} than one if there is a loss of a copy
Published	07/28/2024	On a CMA, {{c2::Log R}} would be {{c1::greater::greater/less}} than one if there is a copy gain
Published	07/28/2024	Two sources of absence of hetereozygosity despite having a normal copy number of chromosomes:Region contains highly {{c1::conserved}} {{c2::SNP}}…
Published	07/28/2024	Observing absence of hetereozygosity can be accomplished by using {{c1::CMA::method to measure gene dosage}}
Published	07/28/2024	The Y chromosome needs {{c1::SRY::specific factor}} to initiate differentiation of the testis
Published	07/28/2024	Klinefelter syndrome individuals are ({{c1::47}}, {{c1::XXY}})
Published	07/28/2024	Why might Sex-determining Region Y get lost or gained during meiosis?
Published	07/28/2024	46, XX males {{c1::gain::gain/lose}} SRY during crossing-over46, XY females {{c1::lose::gain/lose}} SRY during crossing-over
Published	07/28/2024	Dosage compensation occurs between XY and XX individuals through {{c1::X}}-{{c1::inactivation}}
Published	07/28/2024	X-inactivation occurs in {{c1::somatic::somatic/germ}} cells
Published	07/28/2024	What does it mean for female cells to be "functionally hemizygous"?
Published	07/28/2024	hemizygous = {{c1::one}} copy/copies of a gene are present
Published	07/28/2024	A Barr body is made up of highly condensed {{c1::sex}} {{c1::chromatin}}
Published	07/28/2024	What is a Barr body indicative of?
Published	07/28/2024	How many Barr bodies are in cells in a 46, XXY male?
Published	07/28/2024	Why does the different origin for the G6PD gene provide biochemical evidence of X-inactivation?
Published	07/28/2024	What does skewing of X-inactivation refer to?
Published	07/28/2024	Why would skewing of X-inactivation lead to ↑ risk of X-linked genetic disease?
Published	07/28/2024	X Inactive Specific Transcript (XIST) is long non coding RNA expressed from {{c1::X-inactivation center (XIC)}} which contains the Xist …
Published	07/28/2024	Klinefelter Syndrome {{c1::doesn't::does/doesn't}} result from maternal age effect
Published	07/28/2024	Turner syndrome often results from a {{c1::paternal::maternal/paternal}} nondisjunction event
Published	07/28/2024	Fragile X syndrome results from a site on the X chromosome that is {{c1::hard::easy/hard}} to replicate
Published	07/28/2024	Intellectual Disability (ID) presents in Fragile X syndrome only when mutation to create fragile site is inherited from the {{c1::mother::mo…
Published	07/28/2024	How are daughters of normal transmitting males (NTM) of Fragile X syndrome affected?
Published	07/28/2024	Fragile X syndrome {{c1::down::up/down}} regulates production of {{c2::FMR1}}
Published	07/28/2024	How does Fragile X syndrome downregulate production of FMR1?
Published	07/28/2024	Normal Transmitting Males for Fragile X syndrome will have normal, premutation, or full mutation of 5' UTR of Exon 1 for the FMR gene?
Published	07/28/2024	Individuals with an FMR1 premutation have five fold transcription of FMR1 {{c1::RNA}}, which {{c2::bind to and alter}} the function of specific p…
Published	07/28/2024	Significance of lack of B allele from B allele frequency of zero in CMA?
Published	07/28/2024	Turner syndrome only affects {{c1::females::males/females}}
Published	07/28/2024	Mitotic nondisjunction results in {{c1::somatic::somatic/germline}} mosaicism
Published	07/28/2024	What does allelic heterogeneity refer to?
Published	07/28/2024	What does locus heterogeneity refer to?
Published	07/28/2024	FISH provides information about {{c1::presence}}/ {{c1::absence}}, and of {{c1::location}} of genomic material
Published	07/28/2024	If CNV is present in a parent and that parent is “normal”, CNV may be {{c1::benign}};
Published	07/28/2024	How important is gene dosage?
Published	07/28/2024	Non disjunction in meiosis {{c1::I}} produces zygote that has chromosomes with different parents. This is also called {{c2::uniparental heterodisomy}}…
Published	07/28/2024	{{c1::Paracentric}} inversion does not include centromere. Risk of abnormal liveborn offspring is {{c1::low}}.{{c1::Pericentric}} inversion includes c…
Published	07/28/2024	In pericentric inversion, {{c1::crossing over}} can create unbalanced gametes and may result in {{c1::duplication/deficiency}} of segments
Published	07/28/2024	Hereditary liability to pressure palsy (HNPP) results from {{c1::heterozygous loss of PMP22}} as a result of crossing over
Published	07/28/2024	Sex determination: In indifferent stage, {{c1::wolffian duct}} and {{c1::mulllerian}} ducts are present.In normal XX, {{c1::wolffian}} regressesIn nor…
Published	07/28/2024	Sex determination - If both XY or XX castrated, {{c1::mullerian}} persists. {{c1::Wolffian}} regresses.If both XY or XX castrated, but testosterone su…
Published	07/28/2024	If XY is genetically altered to lack androgen receptors, then {{c1::mullerian duct and wolffian}} do not develop
Published	07/28/2024	When it comes to X, in females each cell is functionally {{c1::hemi}}zygous
Published	07/28/2024	Number of Barr bodies?
Published	07/28/2024	Ornithine transcarbamylase is {{c1::X-linked recessive}} disorder. Females show {{c1::mosaicsism}}
Published	07/28/2024	—the Lyon HypothesisX-inactivation in Somatic Cells is {{c1::Early::early/late}},  usually {{c1::Random::Random/non-random}} mostly {{c…
Published	07/28/2024	True or false Some genes escape from x inactivation.
Published	07/28/2024	What are the consequences of X inactivation?
Published	07/28/2024	Three genotypes of Turner syndrome are {{c1::45X}}, {{c1::46X (abnormal X)}}, {{c1::Mosaicism (45X/46XX or XY or X abnormal X caused by mitotic non di…
Published	07/28/2024	{{c1::46,XY}} line in Turner syndrome manifest increased risk for gonadoblastoma
Published	07/28/2024	Why is there Turner syndrome in 45 X females but not 46 XY Males as males also only have one X chromosome? Need X-linked genes that 1. {{c1::escape in…
Published	07/28/2024	Fragile X:Sherman paradox explains that genes for fragile goes through {{c1::permutation}} then to {{c1::full mutation}}
Published	07/28/2024	Fragile X:Premutation has {{c1::55-200}} {{c2::CGG}} repeats. This results in {{c1::normal transmitting}} male and most {{c1::carrier}} females
Published	07/28/2024	Fragile X:Premutation turns into a full mutation through the expansion of the CGG repeats in the 5' UTR after {{c1::meiosis::mitosis/meiosis}} in {{c1…
Published	07/28/2024	CGG expansion in Fragile X can be disrupted by interrupting {{c1::AGG}} triplets every 9-10 repeats
Published	07/28/2024	Full mutation of Fragile X is associated with methylation of {{c1::promoter}} and loss of expression of {{c1::FMR1}}
Published	07/28/2024	What are the three classes of Chromosome Abnormalities?
Published	07/28/2024	Karyotypyping is one type of cytogenetic technology involving {{c1::chromosome staining}}
Published	07/28/2024	Hybrydization techniques are another kind of cytogenetic technology involving {{c1::fluorescent DNA probes}}
Published	07/28/2024	Clinical significance of uniparental disomy include risk for {{c1::imprinted locus disorder}} aka parent-specific gene silencing because of epigenetic…
Published	07/28/2024	Mosaicism involves {{c1::having different genetic or genomic content in cells within a tissue or between tissues}}
Published	07/28/2024	X-Chromosome Inactivation is incomplete meaning that up to {{c1::one third}} of X-chromosomal genes are expressed from {{c1::both}} the active and ina…
Published	07/28/2024	Isochromosome is when {{c1::one arm of the chromosome is lost}}. Other half duplicates itself, which could lead to {{c2::partial trisomy for gene on i…
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