HUMAN

KARYOTYPE
DNA CONDENSATION
CHROMOSOME MORPHOLOGY
METACENTRIC
SISTER CHROMATIDS

SUBMETACENTRIC
SHORT ARMS (p) TELOMERE

CENTROMERE

LONG ARMS (q)

TELOMERE

AKROCENTRIC
SATELLITES
 SAMPLES FOR
CHROMOSOMAL ANALYSIS
PRENATAL DG.: POSTNATAL DG.:
• amniotic fluid • peripheral blood
(amniocytes) (lymphocytes)
• fetal blood • bone marrow
• chorionic villi • skin (fibroblasts)
∼ • carcinoma samples
• umbilical cord and • other tissues
other embryonal
or fetal tissues
CYTOGENETIC ANALYSIS
Peripheral blood

Karyotype Analyse metaphase

Venous blood
with heparine

Digest with trypsin

and stain with Giemsa
Add phytohaemagglutinin
and culture medium

Culture at 37°°C
for 72 hours

Spread cell suspension

Add colchicine onto slide by dropping

Hypotonic
saline Fixation
 HUMAN KARYOTYPE
• 7 groups - depending on the lenght and morphology
• 22 pairs of homologous chromosomes - autosomes
• 1 pair of sex chromosomes

A B
1-3 4-5

C
6 - 12

D E
13 - 15 16 - 18

F G
19 - 20 21 - 22 XX or XY
 HUMAN KARYOTYPE
Chromosome groups characteristics
Group Chromosomes Size and Shape
A 1–3 Large metacentric
B 4 and 5 Large submetacentric
C 6 – 12 and X Medium submetacentric
D 13 – 15 Medium acrocentric
E 16 – 18 Short submetacentric
F 19 and 20 Short metacentric
G 21 and 22 and Y Short acrocentric
G - BANDING PATTERNS
METAPHASE
KARYOTYPE

46,XY
FEMALE KARYOTYPE

46,XX