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Lecture notes

Chromosome Abnormalities, Cytogenetics and Disorder

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1. Provides contrast between numerical and structural chromosomal abnormalities. Defines polyploidy on aneuploidy. Determines which parental meiosis is a non-disjunction. Describes major types of structural chromosome movie arrangements and describes balanced or unbalanced chromosome. 2. Describes...

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  • December 20, 2022
  • 3
  • 2022/2023
  • Lecture notes
  • Dr fabien
  • All classes
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chidinmanzedibe
chromosome Abnormalities 3Cytogenetics
Chromosome abnormalities are:

-common cause of infertility recurrent miscarriage
-
s0% of Isttomester miscamage
-most are spontaneous
chromosomes or content
-can affect change in number of
of individual chromosomes.

Numerical Structural

Aneuploidy Balanced Unbalanced
Polyploidy 300 newborns
-l%ot conceptuses affects -1 in
chromosomal arrangement
affects
rearrangement
.



chromosomal
·
a
unequal
·


nos are
cosslgain of genetic
and
·


chromosomes in
·changes number
of complete
('n), trisomy (3n)
without
any loss/gain
in
genetic thatresults
set of chromosomes (all ·
eg. monsomy material
retrasomy (4n) phenotypic effects
triploidy (3n)-incompatible
has
effect
·




eg. andthe
·no
phenotypic duplication is

withlifecausedby asperms caused by non-disjunctions translocation eg. deletions,
eg. inversions,
during meiosis
unequal crossing over
etaploidy(a-comparblethathappened
·experiences
J




repeats misalign Prophase
-
in
-when
with life
meiosis" "after lot Meiosis I
division after fertilization
"In the beninging"
incompatible with human life
most numerical abnormalities are

except trisomy 13,18,21.



Non-Disjunctions
it can occur in either mum or dad chromosomes
occurred
· in monosomies, it is impossible to know when non-disjunction
instead of one.
·
intrisomies, child gets 2 copies from parents
Meiosis 1

Yoon-disjunction
↳if the 2 chromosomes identical when -




from the same parent are
non-identical -

Meiosis I occurred

↳nondisjunction mostly occurs in maternal
meiosis




Cyto genetics
of chromosomes, their structure, inheritance abnormalities
study ofcentromere
until 1970s, chromosomes were identified by
size position
-classification: meta, submeta,acro-centric
&13, 14, 15,21,22


karyotype
mmm
(somatic, sexual) displayed
an individual's chromosomes
fixing digestion analysis
goes through culture (3days)
-> cell -> ->


of Kanyotype
ideogram: schematic representation

minding
bands due to staining
pattern of light "dark
↓ d
enchromatic heterochromation




banarchaque fines
·omenclatureamomosome 1,2,3etc
1 -
23 porg vizetc 1i2setc


8

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