Cytogenetic Flashcards

7/17/2019 Cytogenetic Flashcards

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Cytogenetic disorders are detected in nearly 1% of what?

Live births

Cytogenetic disorders are detected in about 2% of what?

Pregnancies in women older than 35 years

Cytogenetic disorders are detected in about half of all what?Spontaneous first-trimester abortions

Cytogenetic disorders have

what with more than 100 identifiable syndromes

specific chromosome abnormalities

Cytogenetic disorders are collectively more common than all the what together

mendelian single-gene disorders

Cytogenetics is the study of what

chromosomes! their structure and inheritance

"ame the # applications of Cytogenetics$1% Clinical diagnosis

&% 'ene mapping

3% Cancer cytogenetics

#% Prenatal diagnosis

"ame the ( Clinical )ndications for Chromosome *nalysis$1% Problems of early growth and development

&% Stillbirth and neonatal death

3% +ertility problems

#% +amily history

5% "eoplasia, virtually all cancers are associated with one or more chromosome abnormalities

(% Pregnancy in women of advanced age

+or Chromosome )dentification

+or Chromosome Sources,

"ame the 5 cell types$1% Peripheral lympocytes

&% .one marrow

3% +ibroblasts

#% Chorionic villi

5% *mniotic fluid



+or Peripheral lymphocytes,

"ame the disadvantage$short lived, 3 / # days

"ame the subset of Peripheral lymphocytes$

*lso! name a distinct feature about it$Lymphoblastoid cell lines

immortal

itotic arrest of cells can be performed by what

drugs

+or itotic arrest of cells by drugs,

hat and what for a population of cells in mitosis

Synchroni2e and enrich

hat process would have to happen to release chromosomes

ypotonic lysis

+or the chromosome,

"ame what the short arm is called

p

+or the chromosome,

"ame what the long arm is called4

+or chromosome arms divided into regions,

p1! p&! p3 or 41! 4&! 43

"ame how to count this$

counting outward from centromere

p1! p&! p3 or 41! 4&! 43

for the chromosomes are mar6ed by whatspecific landmar6s

he chromosome arms are divided into regions$

hey have consistent and distinct morphological features$

"ame 3$

1% centromere

&% 6ey bands

3% chromosome ends



he chromosome regions are divided into bands labeled what

p11! p1&! p13$$$

ow do you pronounce p11 of the bands on the chromosomes

pronounce p-one-one 7for p11% "8 p-eleven9

+or further labeling of bands of regions of chromosomes,

"ame how to label sub bands of regions$

p11$1! p11$&! p11$3

+or further labeling of bands of regions of chromosomes,

"ame how to label sub sub bands of regions$ p11$&1! p11$&&! p11$&3

Classification of Chromosomes,

.ased on Centromere Location

"ame the # classifications$

1% etacentric

&% Submetacentric

3% *crocentric

#% elocentric



Centromere near central region of chromosome is called as what

etacentric



Centromere is off-center! arms of clearly different lengths is called as what

Submetacentric



Centromere near one end is called as what

*crocentric

*crocentric chromosome are which ones

Chromosomes,

13



1#

15

&1

&&

*crocentric chromosomes contain small! distinctive masses of chromatin called as whatsatellites

Satellites on *crocentric Chromosomes are attach to what by what p arms by narrow stal6s

Satellites on *crocentric Chromosomes contain hundreds of copies of whatribosomal :"* 7r:"*% genes

+or Classification of Chromosomes


Centromere at one end and only has a single arm is called as what

elocentric

hat is a 6ey distinct feature for elocentric chromosomes

)t does not occur in a normal human 6aryotype


"ame the ; Staining ethods$

1% 'iemsa banding 7' banding%

&% <uinacrine mustard 7< banding%

3% )nverse .anding 7: banding%

#% Centromere banding 7C banding%

5% elomere banding 7 banding%

(% igh-:esolution .anding

;% +luorescence )n Situ ybridi2ation 7+)S%

8f the ; Chromosome )dentification Staining ethods,

hich one is the most common method'iemsa .anding

Chromosomes from prometaphase or metaphase cells are treated with what to digest what

trypsin

proteins



Chromosomes from prometaphase or metaphase cells are treated with trypsin to digest proteins$

hey are stained with what

'iemsa Stain

'iemsa .anding produces characteristic what and what bands

ow many bands

light and dar6 bands

#00 bands

< .anding is stained with what or related compounds

4uinacrine mustard

+or < .anding! there is e=amination by what

fluorescence microscopy

+or < .anding! hat corresponds e=actly to what

.right < bands correspond e=actly to dar6 ' bands

< .anding is useful for detecting what

heteromorphisms

hat is the definition of heteromorphisms

variants in chromosome morphology

+or < .anding,

)t>s useful for detecting heteromorphisms 7variants in chromosome morphology%,

eteromorphisms are generally benign and reflect differences in what amountssatellite ?"*

Chromosomes receive special treatment such as heating before staining using what

: .anding

he ?ar6 and Light band pattern of : .anding is the inverse of that observed by what

' or < banding

: .anding is useful for e=amining regions that what by ' or < banding

"ame the reason for thisstain poorly

somewhat easier to analy2e

: .anding is a fre4uently used method wherein @urope

.anding identifies a subset of the :-bands which are especially concentrated at the whattelomeres



he bands are visuali2ed by what & things

1% Severe heat treatment before staining with 'iemsa

&% Ase of a combination of dyes and fluorochromes


+or Special Cytological Procedures,

C .anding stains what regions of each chromosome and other regions containing constitutive what

centromeric

heterochromatin



+or C .anding,

)t stains centromeric regions of each chromosome and other regions containing constitutive heterochromatin,a

"ame the specific regions of that are stained adBacent to Centromere and that are distal to what part

14! 4! 1( 4 adBacent to Centromere and distal part of D4

eterochromatin is what type of chromatin and is typically what

condensed

transcriptionally inactive

eterochromatin stains dar6ly in what type of cells "on-?ividing Cells

"ame the full name for ' banding$

'iemsa banding

"ame the full name for < banding$

<uinacrine mustard

"ame the full name for : banding$

)nverse .anding

"ame the full name for C banding$

Centromere banding

"ame the full name for banding$

elomere banding

"ame the full name for +)S

+luorescence )n Situ ybridi2ation





igh-:esolution .anding is for what

Prometaphase banding



igh-:esolution .anding is '- or :- banding of chromosomes from either of what two types of cells

prophase or prometaphase



+or igh-:esolution .anding! the chromatin is what

less condensed



igh-:esolution .anding is useful for detecting what in a chromosome

subtle structural abnormalities



igh-:esolution .anding can reveal what to what bands or more in a haploid set

550 to E50 bands


+or Special Cytological Procedures

+ragile Sites are what in metaphase chromosomes

"on-staining gaps



+ragile Sites are occasionally observed at what on several chromosomes

characteristic sites



+or ?emonstration of +ragile Sites,

Cells 7in culture% are e=posed to what & things1% Chemicals

&% 'rowth conditions





+or ?emonstration of +ragile Sites,

here is either of what two things of ?"* synthesis

*lteration or )nhibition



+or +ragile Sites,

any fragile sites means what

heritable variants


Special Cytological Procedures

+or +ragile Sites,

"ame the specific +ragile site$+ragile F site



+or +ragile F Syndrome,

?etection of the fragile site is the diagnostic procedure specific for whatF chromosome



+or +ragile Sites,

+ragile F Syndrome is ostly replaced by molecular testing for what e=pansion

C'' triplet repeat e=pansion



+or +ragile Sites,

+or +ragile F Syndrome,

)t>s mostly replaced by molecular testing for C'' triplet repeat e=pansion using what gene

+:-1 gene



+or chromosome )dentification


+luorescence )n Situ ybridi2ation 7+)S% does what two things and uses what

1% @=amines

&% @valuates

Probes



+or +luorescence )n Situ ybridi2ation 7+)S%,

)t e=amines and evaluates for,

1% hat or what of a particular ?"* se4uence

&% hat or what of a chromosome or chromosomal region

1% Presence or absence

&% "umber or organi2ation



+or +luorescence )n Situ ybridi2ation 7+)S%,

)t uses probes,

1% he probes are highly specific for what

&% Chromosomal what for the entire chromosome

3% ultiple different fluorochromes using what

1% single locus

&% GpaintingH

3% Spectral 6aryotyping

+or Chromosome and 'enome *nalysis,

icroarrays are ?"* analysis on a what levelgenomic level


icroarrays uses what type of process

Comparative 'enome ybridi2ation 7C'%


icroarrays are analy2ed that contain,



1% Complete representation of what 8:

&% Series of what spaced at various intervals

1% entire genome

&% cloned fragments


+or icroarrays,

Comparative 'enomic ybridi2ation 7C'% complements what6aryotyping


+or icroarrays,

Comparative 'enomic ybridi2ation 7C'% is a more what and what type of assessment

ore sensitive and high resolution assessment


+or icroarrays,

Comparative 'enomic ybridi2ation 7C'% only detects what or what of genetic materialloss or gain


+or icroarrays,

Comparative 'enomic ybridi2ation 7C'% is not a mechanism for what two things

1% ranslocation

&% :earrangements from normal position


+or icroarrays,

Comparative 'enomic ybridi2ation 7C'% is not a mechanism for,

1% ranslocation

&% :earrangements from normal position

he reason why C' is not a mechanism for these two things is because it needs to be verified by what+luorescence )n Situ ybridi2ation 7+)S%


+or icroarrays,

igh resolution genome and chromosome analysis can reveal what

subtle variants




+or icroarrays,

igh resolution genome and chromosome analysis can reveal subtle variants in small changes in what between

samplescopy number


+or icroarrays,

here is an increasing number documented and catalogued even in normal population,

1% Iariations may be a what or what

&% Particularly common in what & regions of the chromosome

3% Li6ely to be a benign copy number what

Li6ely to be benign copy number polymorphisms1% few Jb or several b

&% subtelomeric and centromeric

3% polymorphisms

+or chromosome abnormalities

+or onosomies and trisomies

onosomies are more what than trisomies

deleterious

8nly viable form of monosomies is what

monosomy F

Complete trisomies are viable only for which chromosomes

13! 1E! &1! F! and D

Phenotype in partial aneusomies depends on 3 things,

1% Si2e of what

&% hether imbalance is either of what two things

3% 'enes and regions what and what1% unbalanced segment

&% monosomic or trisomic

3% affected and involved

hen trying to predict osacics! what two things can be said



1% unpredictable

&% Kall bets are offK

:ing chromosomes are commonly what

mosaic

+or :ing chromosomes,

he what is specific to the genomic region involved

phenotype

+or Chromosome *bnormalities,

"ame the & inversions$1% Pericentric

&% Paracentric


+or )nversions,

hich one is defined as the ris6 of birth defects increases with si2e of inversions

Pericentric


+or )nversions,

hich one is defined as a very low ris6 of abnormal phenotype

Paracentric

+or edical Significance of itosis and eiosis,

hat is the most common mutational mechanism responsible for chromosomally abnormal fetuses

eiotic "ondysBunction in oogenesis


eiotic "ondysBunction in oogenesis is the leading cause of what two developmental defects

1% +ailure to thrive

&% ental retardation in newborns


itotic "ondysBunction displays what type of patternChromosomal mosaicism


itotic "ondysBunction has what type of signsymptom

umors




itotic "ondysBunction is an important diagnostic and prognostic test in what

cancers


Chromosome utations are

less fre4uent when compared to what

7( = 10-#cell divisions M 1 rearrangement per 1;00 cell divisions%

genome mutations


Chromosome utations are

less fre4uent compared to genome mutations

( = 10-#cell divisions M 1 rearrangement per how many cell divisions

1;00 cell divisions

Chromosome *bnormalities can be either of what & things

1% "umerical

&% Structural

Chromosome abnormalities may involve what or what or both

autosomes or se= chromosomes


+or "umerical *berrations,

hat is defined as a chromosome number that is a multiple of n7M&3%@uploidy



@uploidy is the chromosome number that is a multiple of n7M&3%$

?iploid 7&n% is #( chromosomes / which is characteristic of whatnormal somatic cells



hat is defined as any chromosome complement other than #(

eteroploidy





eteroploidy, any chromosome complement other than #(

riploid 73n% and etraploid 7#n% / which is what two things at the same time

euploid and heteroploid


"umerical *berrations,

+or riploidy and etraploidy,

riploid 73n% fre4uently results from what by whatfertili2ation by two sperm




riploid 73n% arise from failure of one of the what

meiotic divisions




riploid 73n% is partial what

hydatidiform moles




riploid 73n% is partial hydatidiform moles,

1% @=tra paternal chromosomes are as a result of a7n%

&% e=tra maternal chromosomes are usually what1% abnormal placenta

&% spontaneously aborted

+or Chromosome *bnormalities


+or etraploid, #n

:esults from failure of completion of an early what of the whatcleavage division of the 2ygote



+or 8rigins of triploidy and tetraploidy,

*bout how much of human triploids arise by fertili2ation of a single egg by two sperm

*bout ((N


8ther causes of human triploids beside arising by fertili2ation of a single egg by two sperm,

*re ?iploid! which would be how much percentage for ma6ing a triploid

10N


8ther causes of human triploids beside arising by fertili2ation of a single egg by two sperm,

*re a sperm! which would be how much percentage for ma6ing a triploid

&#N


hat is defined as a number of chromosomes that is not a multiple of the haploid number 7i$e$ &3%

*neuploidy


*neuploidy is as a result of what

meiotic nondisBunction


+or *neuploidy,

he most common chromosome abnormalities are what & thingsonosomy and risomy


+or *neuploidy,

onosomies are what! e=cept what

Lethal! e=cept monosomy F


+or *neuploidy,

+or risomies! certain trisomies are what! at least for some time

"ame the risomies$

viable

risomy &1! 1E! 13! F

hat is defined as a failure of a pair of chromosomes to separate properly in meiosis ) 7common% or meiosis ))

"ondisBunction



+or "ondisBunction,

he conse4uence of eiosis ) with a gamete with &# chromosomes is what.oth maternal and paternal members of pair

+or "ondisBunction,

he conse4uence of eiosis )) with a gamete with &# chromosomes is what@ither maternal or paternal copies of the pair

"ondisBunction in mitosis is referred to as whatosaicism


+or Structural *berrations,

Chromosomes brea6 and reconstitute in a7n% whatabnormal combination



Structural *berrations are what when compared to numerical aberrations

Less common



Structural *berrations are less common than numerical aberrations,

Structural *berrations occur what but at a whatspontaneously but at a low rate



Structural *berrations are less common than numerical aberrations,

1% hey occur spontaneously but at a low rate

&% hey are induced by brea6ing agents$ "ame the brea6ing agent and e=amples$

clastogens /

ie! viral infections! ioni2ing radiation! and chemicals



Structural *berrations may be whatmosaic





Structural *berrations can be either what or what

.alanced or Anbalanced



hat is defined as the normal complement of chromosomal material.alanced



hat is defined as additional or missing chromosomal material

Anbalanced



:earrangements may be either of what & thingsStable or Anstable



+or Stable :earrangement,

)t can pass unaltered through what & thingsmitotic and meiotic divisions



+or Stable :earrangement,

)t re4uires normal structural elements$ "ame them$

+unctional centromere and

wo telomeres


+or Anbalanced :earrangements,

Phenotypes are li6ely to be what

abnormal


Anbalanced :earrangements,



he phenotype is li6ely to be abnormal by either of what & things or what

?eletions or duplications or both



he phenotype is li6ely to be abnormal by deletions or duplications or both$

?uplication is considered what

partial trisomy



he phenotype is li6ely to be abnormal by deletions or duplications or both$

?eletion is considered what partial monosomy



hat can be detected by routine banding

Large rearrangements

7b range%



Large rearrangements 7b range% can be detected by routine banding

1% his includes whathigh resolution banding




1% his includes high resolution banding

&% Smaller rearrangements are detected by either of what & things+)S or microarrays







&% Smaller rearrangements are detected by +)S or microarrays

hat disorder is considered a smaller rearrangement)diopathic ental :etardation





&% Smaller rearrangements are detected by +)S or microarrays

)diopathic ental :etardation

is considered a smaller rearrangement

his disorder may be diagnosed by what of what by +)Stargeted cytogenetic analysis of telomeric regions

Chromosome *bnormalities

*rray Comparative 'enomic ybridi2ation 7C'%,

* is a sideways graphy showing chromosomes 1-&& with a normal up and down distribution for all the chromosomes

e=cept chromosome 1& which is 4uite a bit higher than all the other chromosomes! which would ma6e it a trisomy$

)t>s a what of chromosome 1&p

his is characteristic of a normal 6aryotype with symptoms of what disorderPartial duplication

Pallister-Jillian syndrome



. is a sideways graph that is flipped 0 degrees cloc6wise loo6ing at chromosomes 1-&&$ here is normal a little left or

right e=cept an e=cessive left on chromosome 1! so a monosome$

erminal deletion

une=plained mental retardation



C is a sideways graph that is flipped 0 degrees cloc6wise loo6ing at all the regions on chromosome ;$ here is anormal a little left or right e=cept an e=cessive left on chromosome ;4&&! so a monosome$

here is a what of chromosome ;4&&

his is characteristic of a patient with what

?e novo deletion 75 b%

comple= abnormal phenotype





hat is defined as a loss of a chromosomal segment?eletion



+or deletions being a loss of a chromosomal segment,

?eletions are caused by 3 things,

1% Chromosomal what and loss of what segment

&% Ane4ual what

3% *bnormal segregation of a balanced what or what

1% brea6age and loss of acentric

&% crossing over

3% translocation or inversion




?eletions may be what or what

erminal or )nterstitual




?eletions results in partial whatmonosomy




?eletions may result in what and what

haploinsufficiency and phenotype






?eletions are detected by what & thingshigh resolution banding and +)S

+or chromsome abnormalities


?uplications result in what

partial trisomy

+or chromsome abnormalities


?uplications originate by1% Ane4ual what

&% *bnormal segregation of a what or what

1% crossing over

&% translocation or inversion

Chromosome *bnormalities,


hat are small unidentified chromosomes often seen in mosaicisms

ar6er and :ing Chromosomes



ar6er and :ing Chromosomes a6a small unidentified chromosomes are often seen in mosaicisms

hey are also called as either of what & things

1% supernumerary chromosomesor

&% e=tra structurally abnormal chromosomes



ar6er and :ing Chromosomes are diagnosed by what with what+)S with various probes



ar6er and :ing Chromosomes are diagnosed by +)S with various probes

)f tiny! they are what



centric heterochromatin



ar6er and :ing Chromosomes are diagnosed by +)S with various probes

)f larger they contain some what creating some whatchromosome material

imbalance



ar6er and :ing Chromosomes are more commonly seen with what chromosome and what type of chromosomechromosomes 15 and se= chromosomes



+or ar6er and :ing Chromosomes,

"eocentromere

is a subclass of what

mar6er chromosomes




"eocentromeres are small fragments of chromosomes that do not have whatcentromeric se4uences




"eocentromeres are what stableitotically stable




"eocentromeres must have somehow ac4uired what

centromeres activity






:ing chromosomes are

what without whatar6er chromosomes without elomeres




:ing chromosomes are formed by loss of what of what and the ends Boin together

terminal ends of both arms




:ing chromosomes are considered to be what and are what unstable:areO mitotically unstable



hat is defined as a chromosome in which one arm is missing and the other is duplicated in a mirror image fashion

)sochromosomes



+or the mechanism for )sochromosomes! there are & steps,

1% here is a what through the centromere in what

&% here is an e=change involving what and its what adBacent to the centromere

1% isdivision

meiosis ))

&% one arm of a chromosome and its homolog at the pro=imal edge of the arm



For Isochromosomes:

he most commonly observed is whatisochromosome F 4



"ame the ; Chromosome *bnormalities$

1% erminal deletion

&% )nterstitual deletion3% Ane4ual crossing over

#% :ing5% )sochromosomes

(% :obertsonian translocation;% )nsertion



hat is defined as wo chromosome segments! each with a centromere fused end to end?icentric chromosomes



?icentric chromosomes are considered to be what

:are



+or ?icentric chromosomes,

Pseudodicentric can be what stable

)f the two centromeres are coordinated in their movement during what or one centromere is what

mitotically stable

anaphase

inactivated


.alanced :earrangements,

+or .alanced :earrangements there is normally no phenotypic effect in what

carrier individuals



"ormally no phenotypic effect in carrier individuals

Li6ely to produce what which leads to an increased ris6 of abnormal offspring

unbalanced gametes






Li6ely to produce unbalanced gametes which leads to an increased ris6 of abnormal offspring

ay disrupt a gene which would lead to a what

mutation




Li6ely to produce unbalanced gametes which leads to an increased ris6 of abnormal offspring

ay disrupt a gene which leads to a mutation

* mutation occurs in a F-lin6ed diseases in female carriers of balanced F, which are called as whatautosome translocations



hat is defined as wo double strand brea6s and reconstitution with the segment between the brea6s are flipped

)nversions



Name the 2 types of Inversions$

1% Paracentric

&% Pericentric



+or )nversions,

hat is Paracentric defined asnot involving centromere



+or )nversions,

hat is Pericentric defined asinvolving centromeres





+or )nversions,

Paracentric does not involve centromeres

)t leads to unbalanced gametes with what or what recombinant chromosomes which are not viable

here is a low ris6 of what with abnormal 6aryotype

acentric or dicentric

live born



+or )nversions,

Pericentric involve centromeres

hey produce unbalanced gametes with what and what of segments distal to inversion

here is an increased ris6 of abnormal offspring! give the percentage$duplication and deficiency

5-10N



+or )nversions,

"ame the 3 most common pericentric inversions$1% pericentric inversion of chromosome 3

&% inversion of chromosome E 7recombinant E syndrome%

3% inv 7p1141&% , which is most common inversion! and is considered a normal variant



+or )nversions,

+or the Pericentric inversion of chromosome 3,

Carriers of inv73% are what but offspring have characteristic what

normal

abnormal phenotype





+or )nversions,

+or Chromosome E,

Carriers of inv7E% have a (N chance of child with whatrecombinant E syndrome



+or )nversions,

:ecombinant E syndrome is a Lethal disorder with what & signssymptoms

)t is primarily found in what group of people and where

severe cardiac abnormalities and mental retardation

ispanics from S AS*



+or )nversions,

he most common inversion is inv7%7p1141&% with no 6nown what effects and is considered a what

deleterious

normal variant



+or )nversions,

+or the Pericentric )nversion! name it$

)nv73%7p&54&1%



+or )nversions,

+or the Pericentric )nversion

)nv73%7p&54&1%Qits :eported in what continent

)t affects families with ancestors in what of Canada

"orth *merica

maritime provinces





+or )nversions,


)nv73%7p&54&1%Q,

Carriers of the inversion are whatnormal



+or )nversions,


)nv73%7p&54&1%Q,

Carriers of the inversion are normal$

ow much of the carriers have abnormal offspring#0N



+or )nversions,


)nv73%7p&54&1%Q,

Carriers of the inversion are normal$

#0N of the carriers have abnormal offspring

+or what conditiondisorder is there a duplication of segment distal to 34&1 and deletion of segment distal to 3p&5

:ecombinant chromosome 3



hat is defined as an e=change of chromosome segments between non-homologous chromosomesranslocations


.alanced :earrangements

+or ranslocations,

hat are two types of translocations

1% :eciprocal

&% :obertsonian




.alanced :earrangements

+or ranslocations,

hat is defined as a brea6 in two different chromosomes and the material is e=changed

:eciprocal translocation



+or ranslocations,

:eciprocal translocation is relatively what

common



+or ranslocations,

:eciprocal translocation is associated with what & things1% unbalanced gametes and

&% abnormal progeny


+or ranslocations,

+or :obertsonian translocation,

Long arms 74 arm% of two non-homologous what fuse at the centromere forming a single chromosome and the short

arm 7p arm% is lostacrocentric chromosomes


+or ranslocations,


)t>s a balanced 6aryotype with what

#5 chromosomes


+or ranslocations,


Short arms of all 5 pairs of acrocentric chromosomes have multiple copies of what genes! so what are not deleterious

r:"*

deletions




+or ranslocations,


"ame the specific translocation$

)t>s 1 in 1300 incidences$

)t>s the most common what

1341#4

chromosome rearrangement

+or .alanced :earrangements

+or )nsertions,

hat is defined as a segment removed from one chromosome is inserted into a different chromosome "onreciprocal type of translocation

+or .alanced :earrangements

+or )nsertions,

+or "onreciprocal type of translocation,

:e4uire what brea6s

)s relatively what

:e4uire 3 brea6s

rare

+or .alanced :earrangements,

+or )nsertions,

+or nonreciprocal type of translocation,

here is a high ris6 of what! with up to what percentage

abnormal offspring

50N

hat is defined as two or more chromosome complements present in an individual

osaicism

hat are the two categories of osaicism for Cytogenetics 76ey word is for cytogenetics and not from 1st bloc6,

Somatic and 'erm-line osaicism%1% "umerical

&% Structural

hat is a 6ey distinctioncharacteristic for "umerical osaicism

ost common



"umerical osaicism and Structural osaicism is detected by what 3 things

1% Conventional 6aryotyping

&% )nterphase +)S

3% C'

* common cause for "umerical osaicism and Structural osaicism is what "ondisBunction in a post-2ygotic mitotic division

+or osaicism,

Pseudomosaicism is mosaicism that arises how

in cell culture

+or the incidence of Chromosome *nomalies,

+or Live .irths,

Live births

he overall incidence of chromosome abnormalities in newborns is what

1 in 1(0


+or Live .irths,

.alanced rearrangements are rarely identified unless a what of a rearrangement gives birth to a child with a7n% whatcarrier

unbalanced chromosome complement


+or Spontaneous *bortions,

ost common observed 7&0N%is called what and what does it loo6 li6e 6ayotypically

abortuses is #5!F


+or Spontaneous *bortions,

he overall spontaneous abortion rate is what

15N

+or Parent-of-8rigin @ffects,

hat is defined as the differential e=pression of the maternally and paternally inherited alleles at one or more loci

'enomic )mprinting


+or 'enomic )mprinting,



he normal process caused by alteration in germline chromatin is referred to as what

@pigenetic regulation



@pigenetic :egulation is the normal process caused by alteration in germline chromatin

his is done by what or what to what

ethylation of cytosine to 5-methylcytosine



@pigenetic :egulation is the normal process caused by alteration in germline chromatin

ethylation of cytosine to 5-methylcytosine

"ame the e=amples$

1% *ngelman Syndrome

&% Prader-illi Syndrome

*ngelman Syndrome and Prader-illi Syndrome are both considered what type of inheritance

*typical )nheritance

hat is defined as both homologs of a chromosome are derived from only one parent

Aniparental disomy

hat is an e=ample of Aniparental ?isomy

.ec6with-iedeman Syndrome

.ec6with-iedeman Syndrome is considered what type of inheritance

.ec6with-iedeman Syndrome



'enomic )mprinting ta6es place during whatgametogenesis



'enomic )mprinting mar6s genes as what & things

paternal and maternal





he imprint persists in what

somatic cells



'enomic )mprinting is changed in whatgerm cells



'enomic )mprinting is controlled by what

imprint centers



hat is observed in imprinted genes*llelic e=clusion



'enomic )mprinting is e=pressed as only what or what genes

maternal 8: paternal

+or Cytogenetics of ydatidiform oles and 8varian eratomas,

Complete ydatidiform ole is

caused by what

abnormal growth of chorionic villi


Complete ydatidiform ole is

caused by abnormal growth of chorionic villi$

epithelium proliferates and what undergoes what

stroma undergoes cystic cavitation


+or Complete ydatidiform ole,

hat is converted into a mass of tissues resembling whatPlacenta

Ga bunch of grapesH$





8ccurs when what happens

his causes duplication of haploid male chromosome set 7sperm chromosomes%

sperm fertili2es an ovum that lac6s a nucleus



)t can lead to what conditiondisorder

Choriocarcinoma


+or 8varian eratomas,

8varian eratomas are what that arise from what cells containing only maternal chromosomes

:eciprocal to complete moles

.enign tumors

#(! FF

+or 8varian eratomas,

+or 8varian eratomas are benign tumors! that arise from #(! FF cells containing only maternal chromosomes$

8varian eratomas are what when compared to complete moles

are reciprocal to


+or Partial ydatiform oles,

hey are considered what 2ygotically

)n most cases there is whatriploid

@=tra set of chromosomes paternal



here are abundant what and poor what

trophoblast and

poor embryonic development





hat would cause severe retardation of embryonic growth with small and fibrotic placenta

@=tra maternal material


hat is defined as the placenta has a mosaic for an abnormality! that is not apparent in the fetus

Confined Placental osaicism


Confined Placental osaicismis when the placenta has a mosaic for an abnormality! that is not apparent in the fetus

.ut it leads to whatabnormal fetus

o observe chromosomes in uman eiosis there are & approaches$

"ame them

1% ?"* polymorphism or cytogenetic heteromorphism analysis

&% ?irect analysis of chromosomes using +)S

+or observing chromosomes in uman eiosis,

8ne approach is ?"* polymorphism or cytogenetic heteromorphism analysis,

Large study, about how many aneuploid fetuses

here is a significantly different contribution of maternal and paternal what

R1000 aneuploid fetuses

nondisBunction


8ne approach is ?"* polymorphism or cytogenetic heteromorphism analysis,

here was a Large study of R1000 aneuploid fetuses$

here was a significantly different contribution of maternal and paternal nondisBunction

+or aternal,

*bout what N of all ?own Syndrome cases

hat N of trisomy 1(

hat N of Jlinefelter

hat N of all urner cases

R0N of all ?own Syndrome cases

100N of trisomy 1(

50N of Jlinefelter



&0 / 30N of all urner cases


8ne approach is ?irect analysis of chromosomes using +)S,

"ondisBunction of what appears to be more fre4uent than what nondisBunction

se= chromosomes

autosomal


8ne approach is ?irect analysis of chromosomes using +)S,

Sperm +)S is used to evaluate the proportion of normal and abnormal 7balanced! unbalanced% sperm in male what of

what

50N of sperm have whatcarriers of reciprocal translocations

unbalanced 6aryotypes

+or endelian ?isorders with Cytogenetic @ffects,

hat are considered to be

rare single gene syndromes

Chromosome instability syndromes

+or endelian ?isorders with Cytogenetic @ffects,

Chromosome instability syndromes have a characteristic what

cytogenetic abnormality

"ame the ; endelian ?isorders with Cytogenetic @ffects$

1% *ta=ia telangiectasia

&% .loom syndrome

3% +anconi anemia

#% +ragile F Syndrome

5% )C+ syndrome

(% :oberts syndrome

;% Feroderma pigmentosum

Cytogenetic Flashcards

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