Notes in Cytogenetics

To Subscribe, use this Key

Status	Last Update	Fields
Published	08/28/2024	Chromatids consist of a {{c1::p }}arm (the short arm) and the {{c1::q}} arm (the longer arm).
Published	08/28/2024	{{c1::Metacentric}} chromosome structure includes equal amounts of DNA on each side of the centromere.
Published	08/28/2024	{{c1::Submetacentric}} chromosome structure has some imbalanced chromosomal distribution, but there is genetic information on each end of the centrome…
Published	08/28/2024	{{c1::Acrocentric}} chromosomes have DNA on one side, and small nubbins containing only multiple copies of rRNA genes that are capped by a modified te…
Published	08/28/2024	Chromosomes are often imaged at certain points in the cell cycle. These include {{c1::metaphase}}, {{c1::prometaphase}}, and {{c1::interphase with FIS…
Published	08/28/2024	{{c1::G-staining}} is the main staining method for chromosome analysis used in routine clinical cytogenetics.
Published	08/28/2024	A {{c1::karyotype}} is an individual's collection of chromosomes. The term also refers to a laboratory technique that produces an image of an indivi…
Published	08/28/2024	What are three ways by which chromosomes can be identified in karyotype analysis?
Published	08/28/2024	{{c1::Q-banding}} is another type of staining for karyotype analysis, allowing for rapid identification of Y-chromosome.
Published	08/28/2024	{{c1::C-banding}} is another type of staining for karyotype analysis, which can evaluate constitutive heterochromatin or determine if a chromosome is …
Published	08/28/2024	{{c1::R-banding}} is another staining method for karyotype analysis. This makes telomeres more obvious, thus deletion is easier to identify.
Published	08/28/2024	Which three main categories of disease are caused partially or completely by genetic factors?
Published	08/28/2024	Which are more common in the pediatric population: single-gene or chromosomal disorders?
Published	08/28/2024	{{c1::Aneuploidy}} is a chromosomal alteration in which there is an abnormal chromosome number (extra or missing chromosome).
Published	08/28/2024	{{c1::Structural chromosome rearrangements}} are mutations which involve rearrangements between one or more chromosomes.
Published	08/28/2024	{{c1::Euploidy}} is a type of numerical chromosomal abnormality in which there are exact multiples of a haploid set.
Published	08/28/2024	{{c1::Aneuploidy}} is a type of numerical chromosomal abnormality in which there is gain or loss of a few chromosomes.
Published	08/28/2024	{{c1::Structural chromosomal}} abnormalities are those in which rearrangements change the structure of the chromosome.
Published	08/28/2024	In {{c1::mosaicism}}, NOT every cell in the body contains the extra or missing chromosome. In contrast, in aneuploidy, there is an abnormal chrom…
Published	08/28/2024	4865a356b97c4d0e9f118ce9e326c3ce-oa-1
Published	08/28/2024	4865a356b97c4d0e9f118ce9e326c3ce-oa-2
Published	08/28/2024	7b537be0d6bd4cbca8f65309f54673b0-ao-1
Published	08/28/2024	7b537be0d6bd4cbca8f65309f54673b0-ao-2
Published	08/28/2024	0622e35faf284b49bc73def99126f3b7-ao-1
Published	08/28/2024	In Turner's syndrome, individuals have a missing {{c1::Y}}-chromosome.
Published	08/28/2024	Name this chromosomal abnormality.
Published	08/28/2024	3e4b3d4ef39141c687419a2a2520f5a6-ao-1
Published	08/28/2024	Individuals with Klinefelter syndrome have an extra {{c1::X-chromosome}}.
Published	08/28/2024	{{c1::Aneuploidy}}, the most common chromosomal abnormality, occurs because of chromosome mis-segregation during meiotic cell divisions.
Published	08/28/2024	{{c1::Non-disjunction}} is the failure of a chromosome pair to disjoin properly during one of the two meiotic divisions.
Published	08/28/2024	Chromosomal aneuploidy disorders are _________ (inherited / not inherited)
Published	08/28/2024	{{c1::Trisomy 16}} is the most common autosomal trisomy in spontaneous abortions, but not reported in live births.
Published	08/28/2024	What are the four types of live-born trisomies?
Published	08/28/2024	The only viable monosomy is {{c1::45,X}} = {{c1::Turner's syndrome}}.
Published	08/28/2024	The expected conformation of a cell, when individuals receive one chromosome from each parent, is called {{c1::heterodisomy}}. When an individual…
Published	08/28/2024	In genomic imprinting, the gender of the parent who {{c1::transmits}} the abnormality determines whether there is expression of the condition in the c…
Published	08/28/2024	Prader-Willi syndrome (PWS) is an imprinting disorder (loss of expression of one or more normally expressed genes from one parent). Caused by abs…
Published	08/28/2024	Notable symptoms of Prader-Willi Syndrome (PWS) include {{c1::severe hypotonia/feeding difficulties}} in early years, {{c1::extreme hyperphagia and fo…
Published	08/28/2024	{{c1::Acquired uniparental disomy}} occurs when uniparental disomy develops in somatic cells.
Published	08/28/2024	Two types of structural chromosome alterations: {{c1::Balanced}}: the chromosome set has the normal complement of chromosomal material. {{c1…
Published	08/28/2024	a99c4e095cb34733835e34b238528abd-ao-1
Published	08/28/2024	a99c4e095cb34733835e34b238528abd-ao-2
Published	08/28/2024	a99c4e095cb34733835e34b238528abd-ao-3
Published	08/28/2024	a99c4e095cb34733835e34b238528abd-ao-4
Published	08/28/2024	a99c4e095cb34733835e34b238528abd-ao-5
Published	08/28/2024	a99c4e095cb34733835e34b238528abd-ao-6
Published	08/28/2024	a99c4e095cb34733835e34b238528abd-ao-7
Published	08/28/2024	A {{c1::Robertsonian}} translocation is the most common type of chromosomal rearrangement. This involves two acrocentric chromosomes that fuse ne…
Published	08/28/2024	In {{c1::reciprocal translocation}}, there is rearrangement of genetic information from breakage or recombination between two different chromosomes wi…
Published	08/28/2024	{{c1::Reciprocal translocations}} result from breakage of two non-homologous chromosomes with reciprocal exchange of the broken-off segments. Thi…
Published	08/28/2024	In a Robertsonian translocation, there is translocation of the long arms of two acrocentric chromosomes with loss of the nubbins. Carriers are us…
Published	08/28/2024	{{c1::Klinefelter syndrome}} is best defined as male hypogonadism that occurs when there are two or more X chromosomes and one or more Y chromosomes.
Published	08/28/2024	~ 3-4% of Down syndrome cases are caused by {{c1::Robertsonian translocation}} (another type of chromosomal abnormality).
Published	08/28/2024	Name 3 clinical features of Down Syndrome.
Published	08/28/2024	30% of individuals with Down Syndrome have structural {{c1::heart}} problems.
Published	08/28/2024	Name five medical conditions adults with Down syndrome are more at risk to develop.
Published	08/28/2024	What are the two most common features of Klinefelter syndrome?
Published	08/28/2024	In {{c1::Klinefelter}} syndrome: - boys will exhibit low muscle tone (hypotonia) and problems with coordination that can delay development of motor sk…
Published	08/28/2024	Name the condition described by this phrase: 46,XX,del(4)(p15)
Published	08/28/2024	Name the condition described by this phrase: 46,XX,dup(11)(q13q23)
Published	08/28/2024	Name the condition described by this phrase: 46,XY,t(4;9)(q21.2;p22)
Published	08/28/2024	Name the condition described by this phrase: 46,XY,inv(9)(p11 q21.1)
Published	08/28/2024	Cleft lip and palate, congenital heart defects, Alzheimer disease, diabetes, coronary artery disease, and cancer are all examples of what type of chro…
Published	08/28/2024	Multifactorial disorders account for the majority of diseases in the general population. If only considering the genetic component of a multi-fac…
Published	08/28/2024	{{c1::Quantitative}} traits are a class of multi-factorial traits. These are determined by many different genes and environments. They follow a n…
Published	08/28/2024	{{c1::Threshold (qualitative)}} traits are a class of multi-factorial traits. They are either positive or negative, eg. disease or no disease. In…
Published	08/28/2024	Inheritance of multifactorial disorders is caused by multiple variants on different genes working together with or triggered by environmental factors.…
Published	08/28/2024	List some of the factors affecting recurrence risk.
Published	08/28/2024	Heritability (H) is the estimate of the contribution that genetic factors make to the trait. When H={{c1::0}}, trait is entirely due to environme…
Published	08/28/2024	Relative risk (RR) is the {{c1::prevalence of disease in relatives of affected person}} / {{c1::prevalence of the disease in the general population}}.…
Published	08/28/2024	RR in 1st degree relatives = {{c1::square root}} of the general population incidence. When RR = {{c1::1}}, that means a relative is no more likel…
Published	08/28/2024	Hardy-Weinberg principles explain that: 1. {{c1::allele frequencies}} do not change from generation to generation in a large population with rand…
Published	08/28/2024	What is the Hardy-Weinberg equilibrium equation?
Published	08/28/2024	What is the frequency of gene carriers for a recessive (R) trait, in terms of the Hardy-Weinberg equilibrium rule?
Published	08/28/2024	What are the five assumptions of the Hardy-Weinberg equilibrium rule?
Published	08/28/2024	Identify these common cytogenetic nomenclature abbreviations: - cen = {{c1::centromere}}- del = {{c2::deletion}}- dup = {{c3::duplication}}- ins …
Published	08/28/2024	In G-staining, {{c1::gene-dense}} areas are light in color and {{c1::gene-lacking}} areas are dark in color.
Published	08/28/2024	{{c1::Trisomy}}: 3 copies of one gene{{c1::Triploidy}}: 3 copies of EVERY gene
Status	Last Update	Fields