cytogenetic flashcards
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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$1% Peripheral lympocytes
&% .one marrow
3% +ibroblasts
#% Chorionic villi
5% *mniotic fluid
7/17/2019 Cytogenetic Flashcards
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+or Peripheral lymphocytes,
"ame the disadvantage$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
7/17/2019 Cytogenetic Flashcards
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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
Classification of Chromosomes,
.ased on Centromere Location
Centromere near central region of chromosome is called as what
etacentric
Classification of Chromosomes,
.ased on Centromere Location
Centromere is off-center! arms of clearly different lengths is called as what
Submetacentric
Classification of Chromosomes,
.ased on Centromere Location
Centromere near one end is called as what
*crocentric
*crocentric chromosome are which ones
Chromosomes,
13
7/17/2019 Cytogenetic Flashcards
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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
.ased on Centromere Location
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
+or Chromosome )dentification
"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
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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
7/17/2019 Cytogenetic Flashcards
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he bands are visuali2ed by what & things
1% Severe heat treatment before staining with 'iemsa
&% Ase of a combination of dyes and fluorochromes
+or Chromosome )dentification
+or Special Cytological Procedures,
C .anding stains what regions of each chromosome and other regions containing constitutive what
centromeric
heterochromatin
+or Chromosome )dentification
+or Special Cytological Procedures,
+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
+or Chromosome )dentification
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+or Special Cytological Procedures,
igh-:esolution .anding is for what
Prometaphase banding
+or Chromosome )dentification
+or Special Cytological Procedures,
igh-:esolution .anding is '- or :- banding of chromosomes from either of what two types of cells
prophase or prometaphase
+or Chromosome )dentification
+or Special Cytological Procedures,
+or igh-:esolution .anding! the chromatin is what
less condensed
+or Chromosome )dentification
+or Special Cytological Procedures,
igh-:esolution .anding is useful for detecting what in a chromosome
subtle structural abnormalities
+or Chromosome )dentification
+or Special Cytological Procedures,
igh-:esolution .anding can reveal what to what bands or more in a haploid set
550 to E50 bands
+or Chromosome )dentification
+or Special Cytological Procedures
+ragile Sites are what in metaphase chromosomes
"on-staining gaps
+or Chromosome )dentification
+or Special Cytological Procedures
+ragile Sites are occasionally observed at what on several chromosomes
characteristic sites
+or Chromosome )dentification
+or Special Cytological Procedures
+or ?emonstration of +ragile Sites,
Cells 7in culture% are e=posed to what & things1% Chemicals
&% 'rowth conditions
7/17/2019 Cytogenetic Flashcards
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+or Chromosome )dentification
+or Special Cytological Procedures
+or ?emonstration of +ragile Sites,
here is either of what two things of ?"* synthesis
*lteration or )nhibition
+or Chromosome )dentification
+or Special Cytological Procedures
+or +ragile Sites,
any fragile sites means what
heritable variants
+or Chromosome )dentification
Special Cytological Procedures
+or +ragile Sites,
"ame the specific +ragile site$+ragile F site
+or Chromosome )dentification
Special Cytological Procedures
+or +ragile F Syndrome,
?etection of the fragile site is the diagnostic procedure specific for whatF chromosome
+or Chromosome )dentification
Special Cytological Procedures
+or +ragile Sites,
+ragile F Syndrome is ostly replaced by molecular testing for what e=pansion
C'' triplet repeat e=pansion
+or Chromosome )dentification
Special Cytological Procedures
+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
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+or chromosome )dentification
+or Special Cytological Procedures,
+luorescence )n Situ ybridi2ation 7+)S% does what two things and uses what
1% @=amines
&% @valuates
Probes
+or chromosome )dentification
+or Special Cytological Procedures,
+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 chromosome )dentification
+or Special Cytological Procedures,
+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
+or Chromosome and 'enome *nalysis,
icroarrays uses what type of process
Comparative 'enome ybridi2ation 7C'%
+or Chromosome and 'enome *nalysis,
icroarrays are analy2ed that contain,
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1% Complete representation of what 8:
&% Series of what spaced at various intervals
1% entire genome
&% cloned fragments
+or Chromosome and 'enome *nalysis,
+or icroarrays,
Comparative 'enomic ybridi2ation 7C'% complements what6aryotyping
+or Chromosome and 'enome *nalysis,
+or icroarrays,
Comparative 'enomic ybridi2ation 7C'% is a more what and what type of assessment
ore sensitive and high resolution assessment
+or Chromosome and 'enome *nalysis,
+or icroarrays,
Comparative 'enomic ybridi2ation 7C'% only detects what or what of genetic materialloss or gain
+or Chromosome and 'enome *nalysis,
+or icroarrays,
Comparative 'enomic ybridi2ation 7C'% is not a mechanism for what two things
1% ranslocation
&% :earrangements from normal position
+or Chromosome and 'enome *nalysis,
+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 Chromosome and 'enome *nalysis,
+or icroarrays,
igh resolution genome and chromosome analysis can reveal what
subtle variants
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+or Chromosome and 'enome *nalysis,
+or icroarrays,
igh resolution genome and chromosome analysis can reveal subtle variants in small changes in what between
samplescopy number
+or Chromosome and 'enome *nalysis,
+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
7/17/2019 Cytogenetic Flashcards
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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$1% Pericentric
&% Paracentric
+or Chromosome *bnormalities,
+or )nversions,
hich one is defined as the ris6 of birth defects increases with si2e of inversions
Pericentric
+or Chromosome *bnormalities,
+or )nversions,
hich one is defined as a very low ris6 of abnormal phenotype
Paracentric
+or edical Significance of itosis and eiosis,
hat is the most common mutational mechanism responsible for chromosomally abnormal fetuses
eiotic "ondysBunction in oogenesis
+or edical Significance of itosis and eiosis,
eiotic "ondysBunction in oogenesis is the leading cause of what two developmental defects
1% +ailure to thrive
&% ental retardation in newborns
+or edical Significance of itosis and eiosis,
itotic "ondysBunction displays what type of patternChromosomal mosaicism
+or edical Significance of itosis and eiosis,
itotic "ondysBunction has what type of signsymptom
umors
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+or edical Significance of itosis and eiosis,
itotic "ondysBunction is an important diagnostic and prognostic test in what
cancers
+or Chromosome *bnormalities,
Chromosome utations are
less fre4uent when compared to what
7( = 10-#cell divisions M 1 rearrangement per 1;00 cell divisions%
genome mutations
+or Chromosome *bnormalities,
Chromosome utations are
less fre4uent compared to genome mutations
( = 10-#cell divisions M 1 rearrangement per how many cell divisions
1;00 cell divisions
Chromosome *bnormalities can be either of what & things
1% "umerical
&% Structural
Chromosome abnormalities may involve what or what or both
autosomes or se= chromosomes
+or Chromosome *bnormalities,
+or "umerical *berrations,
hat is defined as a chromosome number that is a multiple of n7M&3%@uploidy
+or Chromosome *bnormalities,
+or "umerical *berrations,
@uploidy is the chromosome number that is a multiple of n7M&3%$
?iploid 7&n% is #( chromosomes / which is characteristic of whatnormal somatic cells
+or Chromosome *bnormalities,
+or "umerical *berrations,
hat is defined as any chromosome complement other than #(
eteroploidy
+or Chromosome *bnormalities,
+or "umerical *berrations,
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eteroploidy, any chromosome complement other than #(
riploid 73n% and etraploid 7#n% / which is what two things at the same time
euploid and heteroploid
+or Chromosome *bnormalities,
"umerical *berrations,
+or riploidy and etraploidy,
riploid 73n% fre4uently results from what by whatfertili2ation by two sperm
+or Chromosome *bnormalities,
"umerical *berrations,
+or riploidy and etraploidy,
riploid 73n% arise from failure of one of the what
meiotic divisions
+or Chromosome *bnormalities,
"umerical *berrations,
+or riploidy and etraploidy,
riploid 73n% is partial what
hydatidiform moles
+or Chromosome *bnormalities,
"umerical *berrations,
+or riploidy and etraploidy,
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 "umerical *berrations,
+or etraploid, #n
:esults from failure of completion of an early what of the whatcleavage division of the 2ygote
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+or 8rigins of triploidy and tetraploidy,
*bout how much of human triploids arise by fertili2ation of a single egg by two sperm
*bout ((N
+or 8rigins of triploidy and tetraploidy,
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
+or 8rigins of triploidy and tetraploidy,
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
+or Chromosome *bnormalities,
hat is defined as a number of chromosomes that is not a multiple of the haploid number 7i$e$ &3%
*neuploidy
+or Chromosome *bnormalities,
*neuploidy is as a result of what
meiotic nondisBunction
+or Chromosome *bnormalities,
+or *neuploidy,
he most common chromosome abnormalities are what & thingsonosomy and risomy
+or Chromosome *bnormalities,
+or *neuploidy,
onosomies are what! e=cept what
Lethal! e=cept monosomy F
+or Chromosome *bnormalities,
+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
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+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 Chromosome *bnormalities,
+or Structural *berrations,
Chromosomes brea6 and reconstitute in a7n% whatabnormal combination
+or Chromosome *bnormalities,
+or Structural *berrations,
Structural *berrations are what when compared to numerical aberrations
Less common
+or Chromosome *bnormalities,
+or Structural *berrations,
Structural *berrations are less common than numerical aberrations,
Structural *berrations occur what but at a whatspontaneously but at a low rate
+or Chromosome *bnormalities,
+or Structural *berrations,
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
+or Chromosome *bnormalities,
+or Structural *berrations,
Structural *berrations may be whatmosaic
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+or Chromosome *bnormalities,
+or Structural *berrations,
Structural *berrations can be either what or what
.alanced or Anbalanced
+or Chromosome *bnormalities,
+or Structural *berrations,
hat is defined as the normal complement of chromosomal material.alanced
+or Chromosome *bnormalities,
+or Structural *berrations,
hat is defined as additional or missing chromosomal material
Anbalanced
+or Chromosome *bnormalities,
+or Structural *berrations,
:earrangements may be either of what & thingsStable or Anstable
+or Chromosome *bnormalities,
+or Structural *berrations,
+or Stable :earrangement,
)t can pass unaltered through what & thingsmitotic and meiotic divisions
+or Chromosome *bnormalities,
+or Structural *berrations,
+or Stable :earrangement,
)t re4uires normal structural elements$ "ame them$
+unctional centromere and
wo telomeres
+or Chromosome *bnormalities,
+or Anbalanced :earrangements,
Phenotypes are li6ely to be what
abnormal
+or Chromosome *bnormalities,
Anbalanced :earrangements,
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he phenotype is li6ely to be abnormal by either of what & things or what
?eletions or duplications or both
+or Chromosome *bnormalities,
Anbalanced :earrangements,
he phenotype is li6ely to be abnormal by deletions or duplications or both$
?uplication is considered what
partial trisomy
+or Chromosome *bnormalities,
Anbalanced :earrangements,
he phenotype is li6ely to be abnormal by deletions or duplications or both$
?eletion is considered what partial monosomy
+or Chromosome *bnormalities,
Anbalanced :earrangements,
hat can be detected by routine banding
Large rearrangements
7b range%
+or Chromosome *bnormalities,
Anbalanced :earrangements,
Large rearrangements 7b range% can be detected by routine banding
1% his includes whathigh resolution banding
+or Chromosome *bnormalities,
Anbalanced :earrangements,
Large rearrangements 7b range% can be detected by routine banding
1% his includes high resolution banding
&% Smaller rearrangements are detected by either of what & things+)S or microarrays
+or Chromosome *bnormalities,
Anbalanced :earrangements,
Large rearrangements 7b range% can be detected by routine banding
1% his includes high resolution banding
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&% Smaller rearrangements are detected by +)S or microarrays
hat disorder is considered a smaller rearrangement)diopathic ental :etardation
+or Chromosome *bnormalities,
Anbalanced :earrangements,
Large rearrangements 7b range% can be detected by routine banding
1% his includes high resolution banding
&% 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
Chromosome *bnormalities
*rray Comparative 'enomic ybridi2ation 7C'%,
. 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
Chromosome *bnormalities
*rray Comparative 'enomic ybridi2ation 7C'%,
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
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+or Chromosome *bnormalities,
Anbalanced :earrangements,
hat is defined as a loss of a chromosomal segment?eletion
+or Chromosome *bnormalities,
Anbalanced :earrangements,
+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
+or Chromosome *bnormalities,
Anbalanced :earrangements,
+or deletions being a loss of a chromosomal segment,
?eletions may be what or what
erminal or )nterstitual
+or Chromosome *bnormalities,
Anbalanced :earrangements,
+or deletions being a loss of a chromosomal segment,
?eletions results in partial whatmonosomy
+or Chromosome *bnormalities,
Anbalanced :earrangements,
+or deletions being a loss of a chromosomal segment,
?eletions may result in what and what
haploinsufficiency and phenotype
+or Chromosome *bnormalities,
Anbalanced :earrangements,
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+or deletions being a loss of a chromosomal segment,
?eletions are detected by what & thingshigh resolution banding and +)S
+or chromsome abnormalities
Anbalanced :earrangements,
?uplications result in what
partial trisomy
+or chromsome abnormalities
Anbalanced :earrangements,
?uplications originate by1% Ane4ual what
&% *bnormal segregation of a what or what
1% crossing over
&% translocation or inversion
Chromosome *bnormalities,
Anbalanced :earrangements,
hat are small unidentified chromosomes often seen in mosaicisms
ar6er and :ing Chromosomes
Chromosome *bnormalities,
Anbalanced :earrangements,
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
Chromosome *bnormalities,
Anbalanced :earrangements,
ar6er and :ing Chromosomes are diagnosed by what with what+)S with various probes
Chromosome *bnormalities,
Anbalanced :earrangements,
ar6er and :ing Chromosomes are diagnosed by +)S with various probes
)f tiny! they are what
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centric heterochromatin
Chromosome *bnormalities,
Anbalanced :earrangements,
ar6er and :ing Chromosomes are diagnosed by +)S with various probes
)f larger they contain some what creating some whatchromosome material
imbalance
Chromosome *bnormalities,
Anbalanced :earrangements,
ar6er and :ing Chromosomes are more commonly seen with what chromosome and what type of chromosomechromosomes 15 and se= chromosomes
Chromosome *bnormalities,
Anbalanced :earrangements,
+or ar6er and :ing Chromosomes,
"eocentromere
is a subclass of what
mar6er chromosomes
Chromosome *bnormalities,
Anbalanced :earrangements,
+or ar6er and :ing Chromosomes,
"eocentromeres are small fragments of chromosomes that do not have whatcentromeric se4uences
Chromosome *bnormalities,
Anbalanced :earrangements,
+or ar6er and :ing Chromosomes,
"eocentromeres are what stableitotically stable
Chromosome *bnormalities,
Anbalanced :earrangements,
+or ar6er and :ing Chromosomes,
"eocentromeres must have somehow ac4uired what
centromeres activity
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Chromosome *bnormalities,
Anbalanced :earrangements,
+or ar6er and :ing Chromosomes,
:ing chromosomes are
what without whatar6er chromosomes without elomeres
Chromosome *bnormalities,
Anbalanced :earrangements,
+or ar6er and :ing Chromosomes,
:ing chromosomes are formed by loss of what of what and the ends Boin together
terminal ends of both arms
Chromosome *bnormalities,
Anbalanced :earrangements,
+or ar6er and :ing Chromosomes,
:ing chromosomes are considered to be what and are what unstable:areO mitotically unstable
Chromosome *bnormalities,
Anbalanced :earrangements,
hat is defined as a chromosome in which one arm is missing and the other is duplicated in a mirror image fashion
)sochromosomes
Chromosome *bnormalities,
Anbalanced :earrangements,
+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
Chromosome *bnormalities,
Anbalanced :earrangements,
For Isochromosomes:
he most commonly observed is whatisochromosome F 4
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"ame the ; Chromosome *bnormalities$
1% erminal deletion
&% )nterstitual deletion3% Ane4ual crossing over
#% :ing5% )sochromosomes
(% :obertsonian translocation;% )nsertion
Chromosome *bnormalities,
Anbalanced :earrangements,
hat is defined as wo chromosome segments! each with a centromere fused end to end?icentric chromosomes
Chromosome *bnormalities,
Anbalanced :earrangements,
?icentric chromosomes are considered to be what
:are
Chromosome *bnormalities,
Anbalanced :earrangements,
+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
Chromosome *bnormalities,
.alanced :earrangements,
+or .alanced :earrangements there is normally no phenotypic effect in what
carrier individuals
Chromosome *bnormalities,
.alanced :earrangements,
"ormally no phenotypic effect in carrier individuals
Li6ely to produce what which leads to an increased ris6 of abnormal offspring
unbalanced gametes
Chromosome *bnormalities,
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.alanced :earrangements,
"ormally no phenotypic effect in carrier individuals
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
Chromosome *bnormalities,
.alanced :earrangements,
"ormally no phenotypic effect in carrier individuals
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
Chromosome *bnormalities,
.alanced :earrangements,
hat is defined as wo double strand brea6s and reconstitution with the segment between the brea6s are flipped
)nversions
Chromosome *bnormalities,
.alanced :earrangements,
Name the 2 types of Inversions$
1% Paracentric
&% Pericentric
Chromosome *bnormalities,
.alanced :earrangements,
+or )nversions,
hat is Paracentric defined asnot involving centromere
Chromosome *bnormalities,
.alanced :earrangements,
+or )nversions,
hat is Pericentric defined asinvolving centromeres
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Chromosome *bnormalities,
.alanced :earrangements,
+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
Chromosome *bnormalities,
.alanced :earrangements,
+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
Chromosome *bnormalities,
.alanced :earrangements,
+or )nversions,
"ame the 3 most common pericentric inversions$1% pericentric inversion of chromosome 3
&% inversion of chromosome E 7recombinant E syndrome%
3% inv 7p1141&% , which is most common inversion! and is considered a normal variant
Chromosome *bnormalities,
.alanced :earrangements,
+or )nversions,
+or the Pericentric inversion of chromosome 3,
Carriers of inv73% are what but offspring have characteristic what
normal
abnormal phenotype
Chromosome *bnormalities,
.alanced :earrangements,
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+or )nversions,
+or Chromosome E,
Carriers of inv7E% have a (N chance of child with whatrecombinant E syndrome
Chromosome *bnormalities,
.alanced :earrangements,
+or )nversions,
:ecombinant E syndrome is a Lethal disorder with what & signssymptoms
)t is primarily found in what group of people and where
severe cardiac abnormalities and mental retardation
ispanics from S AS*
Chromosome *bnormalities,
.alanced :earrangements,
+or )nversions,
he most common inversion is inv7%7p1141&% with no 6nown what effects and is considered a what
deleterious
normal variant
Chromosome *bnormalities,
.alanced :earrangements,
+or )nversions,
+or the Pericentric )nversion! name it$
)nv73%7p&54&1%
Chromosome *bnormalities,
.alanced :earrangements,
+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
Chromosome *bnormalities,
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.alanced :earrangements,
+or )nversions,
+or the Pericentric )nversion
)nv73%7p&54&1%Q,
Carriers of the inversion are whatnormal
Chromosome *bnormalities,
.alanced :earrangements,
+or )nversions,
+or the Pericentric )nversion
)nv73%7p&54&1%Q,
Carriers of the inversion are normal$
ow much of the carriers have abnormal offspring#0N
Chromosome *bnormalities,
.alanced :earrangements,
+or )nversions,
+or the Pericentric )nversion
)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
Chromosome *bnormalities,
.alanced :earrangements,
hat is defined as an e=change of chromosome segments between non-homologous chromosomesranslocations
+or Chromosome *bnormalities,
.alanced :earrangements
+or ranslocations,
hat are two types of translocations
1% :eciprocal
&% :obertsonian
+or Chromosome *bnormalities,
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.alanced :earrangements
+or ranslocations,
hat is defined as a brea6 in two different chromosomes and the material is e=changed
:eciprocal translocation
+or Chromosome *bnormalities,
.alanced :earrangements,
+or ranslocations,
:eciprocal translocation is relatively what
common
+or Chromosome *bnormalities,
.alanced :earrangements,
+or ranslocations,
:eciprocal translocation is associated with what & things1% unbalanced gametes and
&% abnormal progeny
.alanced :earrangements,
+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
.alanced :earrangements,
+or ranslocations,
+or :obertsonian translocation,
)t>s a balanced 6aryotype with what
#5 chromosomes
.alanced :earrangements,
+or ranslocations,
+or :obertsonian translocation,
Short arms of all 5 pairs of acrocentric chromosomes have multiple copies of what genes! so what are not deleterious
r:"*
deletions
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.alanced :earrangements,
+or ranslocations,
+or :obertsonian translocation,
"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
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"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 the incidence of Chromosome *nomalies,
+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 the incidence of Chromosome *nomalies,
+or Spontaneous *bortions,
ost common observed 7&0N%is called what and what does it loo6 li6e 6ayotypically
abortuses is #5!F
+or the incidence of Chromosome *nomalies,
+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 Parent-of-8rigin @ffects,
+or 'enomic )mprinting,
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he normal process caused by alteration in germline chromatin is referred to as what
@pigenetic regulation
+or Parent-of-8rigin @ffects,
+or 'enomic )mprinting,
@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
+or Parent-of-8rigin @ffects,
+or 'enomic )mprinting,
@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
+or Parent-of-8rigin @ffects,
+or 'enomic )mprinting,
'enomic )mprinting ta6es place during whatgametogenesis
+or Parent-of-8rigin @ffects,
+or 'enomic )mprinting,
'enomic )mprinting mar6s genes as what & things
paternal and maternal
+or Parent-of-8rigin @ffects,
+or 'enomic )mprinting,
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he imprint persists in what
somatic cells
+or Parent-of-8rigin @ffects,
+or 'enomic )mprinting,
'enomic )mprinting is changed in whatgerm cells
+or Parent-of-8rigin @ffects,
+or 'enomic )mprinting,
'enomic )mprinting is controlled by what
imprint centers
+or Parent-of-8rigin @ffects,
+or 'enomic )mprinting,
hat is observed in imprinted genes*llelic e=clusion
+or Parent-of-8rigin @ffects,
+or 'enomic )mprinting,
'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
+or Cytogenetics of ydatidiform oles and 8varian eratomas,
Complete ydatidiform ole is
caused by abnormal growth of chorionic villi$
epithelium proliferates and what undergoes what
stroma undergoes cystic cavitation
+or Cytogenetics of ydatidiform oles and 8varian eratomas,
+or Complete ydatidiform ole,
hat is converted into a mass of tissues resembling whatPlacenta
Ga bunch of grapesH$
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+or Cytogenetics of ydatidiform oles and 8varian eratomas,
+or Complete ydatidiform ole,
8ccurs when what happens
his causes duplication of haploid male chromosome set 7sperm chromosomes%
sperm fertili2es an ovum that lac6s a nucleus
+or Cytogenetics of ydatidiform oles and 8varian eratomas,
+or Complete ydatidiform ole,
)t can lead to what conditiondisorder
Choriocarcinoma
+or Cytogenetics of ydatidiform oles and 8varian eratomas,
+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 Cytogenetics of ydatidiform oles and 8varian eratomas,
+or Partial ydatiform oles,
hey are considered what 2ygotically
)n most cases there is whatriploid
@=tra set of chromosomes paternal
+or Cytogenetics of ydatidiform oles and 8varian eratomas,
+or Partial ydatiform oles,
here are abundant what and poor what
trophoblast and
poor embryonic development
+or Cytogenetics of ydatidiform oles and 8varian eratomas,
+or Partial ydatiform oles,
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hat would cause severe retardation of embryonic growth with small and fibrotic placenta
@=tra maternal material
+or Cytogenetics of ydatidiform oles and 8varian eratomas,
hat is defined as the placenta has a mosaic for an abnormality! that is not apparent in the fetus
Confined Placental osaicism
+or Cytogenetics of ydatidiform oles and 8varian eratomas,
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
+or observing chromosomes in uman eiosis,
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
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&0 / 30N of all urner cases
+or observing chromosomes in uman eiosis,
8ne approach is ?irect analysis of chromosomes using +)S,
"ondisBunction of what appears to be more fre4uent than what nondisBunction
se= chromosomes
autosomal
+or observing chromosomes in uman eiosis,
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