Cytogenetics

Flipped class
Learning objectives
• To know the chromosome structure
• To learn the characteristics of the
centromere and telomeres
• To know the chromosome classification
• To learn about the karyotype and
banding techniques
• To recognize the karyotype
nomenclature
• To identify the molecular techniques for
the study of chromosomes
 GO TO MIS CURSOS- WEEK 8- PASSWORD: CHROMOSOME
CYTOGENETICS QUIZ

Pre-lectio
assesment

YOU WILL HAVE 4 MINUTES

TO COMPLETE THIS ACTIVITY
Chromosomes
Highly organized structures, consisting
of DNA and proteins, which contains
most of the genetic information of an
individual.

The highest level of packing of

chromatin

46 Chromosomes (23 pairs)

44 Autosomes (22 pairs) 2 Sex chromosomes (1 pair)

Structure of the chromosome

Euchromatin bands
Many genes
Early replication
GC rich

Heterochromatin bands
Few genes
Late replication
AT rich
Centromere and Telomeres
• Centromere
• Highly differentiated chromosomal region that
fulfills several functions during cell division.
• Kinetochore assembly, correct chromosomal
segregation during mitosis and meiosis.
• Short DNA sequences in tandem (171pb) called
alpha satellites.
• Alpha satellite DNA promotes the formation of the
centromere by recruiting more proteins.
• Proteins for the formation of kinetochore.
Centromere and Telomeres
• Telomeres
• Cell structures found at the end of
chromosomes
• Non-coding DNA in tandem sequences
of 6 nucleotides (TTAGGG)
• Length between 5 and 15 kb
• Shelterin, regulates telomeric
maintenance.
 Telomeres
• Protection of the chromosome
• Genomic stability
• Transcriptional silencing of genes located near
the telomere
• Telomerase
• A ribonucleoprotein complex composed of a
catalytic subunit with reverse transcriptase
activity (Tert), an RNA component (Terc) that
serves as a template for DNA synthesis and the
protein diskerin (Dkc1) that is responsible for
the assembly between Tert and Terc.
Types of chromosomes
• Metacentric: the centromere occurs
near the middle of the chromosome

• Submetacentric: have centromeres

somewhere between the middle and
the telomeres

• Acrocentric: centromere near the

telomeres
Types of chromosomes
A B
• Group A: large metacentric
• Group B: large submetacentric
• Group C: medium
submetacentric
• Group D: medium acrocentric
• Group E: small submetacentric
C
• Group F: small metacentric
• Group G: small acrocentric D E
C G
F G
Karyotype
 KARYOTYPE DESCRIPTION
46,XY Normal male chromosome constitution
47,XX,+21 Female with trisomy 21, Down syndrome
47,XY,+21[10]/46,XY[10] Male who is a mosaic of trisomy 21 cells and normal
cells (10 cells scored for each karyotype)
46,XY,del(4)(p14) Male with distal and terminal deletion of the short
arm of chromosome 4 from band p14 to terminus

Karyotype 46,XX,dup(5)(p14p15.3) Female with a duplication within the short arm of

chromosome 5 from bands p14 to p15.3

Nomenclature
45,XY,der(13;14)(q10;q10) A male with a balanced Robertsonian translocation of
chromosomes 13 and 14; karyotype shows that one
normal 13 and one normal 14 are missing and
replaced with a derivative chromosome composed of
the long arms of chromosomes 13 and 14
46,XY,t(11;22)(q23;q22) A male with a balanced reciprocal translocation
between chromosomes 11 and 22; the breakpoints
are at 11q23 and 22q22
46,XX,inv(3)(p21q13) An inversion on chromosome 3 that extends from
p21 to q13; because it includes the centromere, this
is a pericentric inversion
46,X,r(X)(p22.3q28) A female with one normal X chromosome and one
ring X chromosome formed by breakage at bands
p22.3 and q28 with subsequent fusion
46,X,i(Xq) A female with one normal X chromosome and an
isochromosome of the long arm of the X
chromosome
 G-banding
C-banding
Cytogenetic
analysis

Spectral karyotype CGH FISH

 • WORK in GROUPS!!

• The First image represents a real

karyotype, in this image you will identify
the CENTROMERE of all chromosomes
using an arrow to denote the centromere.

Class activity • After you identify the centromere of each

chromosome you will classify them as
metacentrics, submetacentrics, and
achrocentrics. Please put the letter M
next to the chromosome if it is a
METACENTRIC, the letter S for
SUBMETACENTRIC and the letter A for
ACROCENTRIC.
 The second image represents a
karyotype in which the
chromosomes are ordered by
size and grouped in pairs.

Class activity In this image you will provide the

CORRECT nomenclature for the
patient´s karyotype, take into
account that 14 metaphases
were observed to obtain the
result of the karyotype.
 You will have the rest of the class to
complete your activity

You can perform your activity in a

WORD file or in a POWERPOINT file
Class activity Once you finished, upload your
activity in Mis cursos as a pdf file

The professors will asist you during

the class in case of questions
POSTLECTIO ACTIVITY
• Work in groups!!
• Design a clinical case of one of the following diseases:
Group Disease
1 Williams-Beuren syndrome
2 Di George syndrome
3 Cri-du-chat syndrome
4 Kallman Syndrome
5 Robistein-Taybi Syndrome
6 Wolf-Hirschhorn Syndrome

• The file “GEN_SEP02_POSTLECTIO” (Mis cursos>Week 7) contains all

the characteristics you have to include in your clinical case
• Once you finished upload your assigment as a pdf file