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HUMAN CHROMOSOMES& GENETIC COUNSELLING
Dr. Minawati, MMed
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CHROMOSOME INTRODUCTION
CHROMOSOME
• CENTRAL DOGMA
• NOMENCLATURE/CLASSIFICATION
BANDINGTECHNIQUES
• Q, G, R, C, NEOBINDING
• FISH• COMPARATIVE
GENOMICHYBRIDIZATION
CHROMOSOMALABERRATIONS
• POLYPLOIDY• ANEUPLOIDY:
MONOSOMY,TRISOMY
• DELETION, INSERTION,INVERSION,
TRANSLOCATIONS,ETC.
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What is Chromosome?
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THE CELL CYCLE
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MITOSIS
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CHROMOSOME:
STRUCTURE & MORPHOLOGY
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CHROMOSOME:
STRUCTURE & MORPHOLOGY
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CHROMOSOME:
STRUCTURE & MORPHOLOGY
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GENE EXPRESSION
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GENE EXPRESSION
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GENE EXPRESSION
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CHROMOSOMES BANDING
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ISCN (International System for Cytogenetic Nomenclature)
Chromosome 1 Chromosome 12
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P = petite
Q = queued
Waldeyer
(1888)metaphase
chromosome
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Chromosometranslocations:dangerousliaisonsrevisited
Janet D.Rowley
NatureReviewsCancer 1,245-250(December2001)
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‘fish’ or ‘FISH’ ?
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FISH
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FISH
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Flow Cytometry
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Spectral karyotyping &multicolor-FISH
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Comparative Genomic Hybridization
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CHROMOSOMAL ABERRATIONS
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General Guidelines:
modal number, sex chrom, abn
abbrev (first chrom; second chrom)
(arm band number; arm bandnumber)
Ex:
46,XX,t(1;2)(p32;q22)
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Symbols and Abbreviations:
, Separates chromosomemodal number, sexchromosomes, and
chromosome abnormalities
- Loss of a chromosome
( ) Surround structurallyaltered chromosomes and
breakpoints
+ Gain of a chromosome
; Separates rearrangedchromosomes and breakpoints
involving more than onechromosome
/ Separates cell lines orclones
// Separates recipient anddonor cell lines in bone
marrow transplants
h Heterochromaticregion of chromosome
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Symbols and Abbreviations:
del Deletion
dup Duplication of a portionof a chromosome
ins Insertion of a portion ofa chromosome
der
dic Dicentric chromosome
Fra Fragile site (usually usedwith Fragile-X syndrome)
i Isochromosome (both armsof the chromosome are the
same)
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Symbols and Abbreviations:
inv Inversion
q Long armof a chromosome
r Ringchromosome
tri Trisomy
p Short armof a chromosome
psu dic Only one
centromere is active(pseudo dicentric)
t Translocation
ter Terminal endof arm (i.e. 2qter -end of the long armof chromosome 2)
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NUMERICAL ABERATIONS
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TRANSLOCATION
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TRANSLOCATION
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TRANSLOCATION
Philadelphia
Chromosome
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DELETION
Chromosome
18 Deletions
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CRI DU CHAT Chromosome
-
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INVERSION & RING CHROMOSOME
-
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RING CHROMOSOME
Arq. Neuro-
Psiquiatr. vol.60
no.3A São
Paulo Sept. 2002
EPILEPSY AND
RING
CHROMOSOME
20
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INVERSION
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Pericentric inversion of chromosome 9
Positivereproductivefamily historyfor spontaneousabortion:predictor forrecurrent
miscarriage inyoung couples
European Journalof Obstetrics &Gynecology andReproductiveBiology
Volume 161,Issue 2, April2012, Pages182 – 186
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DICENTRIC CHROMOSOME
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CHROMOSOME 18 ABERRATIONS
Life with a
Chromosome
18 Condition
http://www.ch
romosome18.org/WhoWeAr
e/LifewithaCh
romosome18C
ondition/tabid
/782/Default.
aspx
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CHROMOSOME 18 ABERRATIONS
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CHROMOSOME 18 ABERRATIONS
Another
condition:
Pitt-Hopkin
Syndrome
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GENETIC COUNSELLING
“If we have another child, what is
the likelihood that our next child will
have Trisomy 18?”
“If we have another child, what isthe likelihood that our next child willhave Down Syndrome?”
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GENETIC COUNSELLING
-
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DOWN SYNDROME
1% if nondisjunction or maternal age-adjusted riskif that is greater (this represents an increased riskfor patients under age 30 and we're unsure why)
recurrence risk for familial 14/21 translocationvaries according to which parent is affected bybalanced Robertsonian translocation (3-5% males10-15% females)
100% if parent has 21/21 translocation (rare) no increased risk if child has a de novo
translocation
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GENETIC COUNSELLING
Genetic
Counselling
for
Chromosomall
Aberration:
Robertsonian
Translocation
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GENETIC COUNSELLING
Genetic
Counselling
for
Chromosom
Aberration:
Down
Syndrome
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GENETIC COUNSELLING
NON
DISJUNCTION
N N N
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GENETIC COUNSELLING
Genetic
Counselling
for other
chromosom
aberrations:
Inversion
&
Ring
chromosome
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PEDIGREE
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PEDIGREE
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PEDIGREE
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TAKE HOME MESSAGES
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TAKE HOME MESSAGES
REFERRENCES
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REFERRENCES
http://www.nature.com/scitable/topicpage/cytogenetic-methods-and-disease-flow-cytometry-cgh-772
http://cpd.screening.nhs.uk/timeline
http://www.chromosome18.org/LinkClick.aspx?fileticket=hfLGlJST6
mk%3d&tabid=127 http://www.geneticseducation.nhs.uk/media/33917/family%20hist
ory%20part%201.pdf
http://www.nature.com/scitable/topicpage/cytogenetic-methods-and-disease-flow-cytometry-cgh-772
http://www.nature.com/scitable/topicpage/chromosome-abnormalities-and-cancer-cytogenetics-879
http://www.authorstream.com/Presentation/chhabra61-439811-chromosome-banding-techniques/