Human karyotype

Genes per chromosome

Common elements of ALL chromosomes: chromatids, the
centromere and the telomeres.
 Parts of Chromosomes
Telomeres
Telomeres

p arm

Centromeres
q arm

Telomeres
Common elements of SOME chromosomes: secondary constrictions;
satellites
Particular elements for EACH chromosome: chromosome bands.

Satellite

Secondary constriction
P ARM

CENTROMERE

Q ARM

TELOMERES
morphology of chromosomes.

Satellite

P arm

Centromere
(primary constriction)

q Secondary constriction

telomere

Chromatid
Criteria used for chromosome classification.

Chromosome size (1,5-10 )

Centromere position and length of
chromosome arms.
i.c = p/p+q .100
r = q/p
d = q-p
Presence/absence of secondary constrictions
and satellites.
 CLASSES OF CHROMOSOMES
Metacentric chromosomes (q=p)
Submetacentric chromosomes (p=1/3L)
Acrocentric chromosomes (p=1/10L)
 Cytogenetics the field of genetics that studies
chromosomes and their behaviour during cell division.

Conventional cytogenetics analyses the number and

structure of all 46 banded chromosomes (karyotype).

Mollecular cytogenetics analysis of some certain

chromosomes, of certain specific loci on chromosomes
(using marked fluorescent DNA samples)

KARYOTYPE - An organized visual profile of the

chromosomes of an individual or a species, arranged by
number, form, size of the chromosomes and other
chromosome particularities.
 The
chromosome under high
objective lens,
Chromosomes in a somatic cell
under oil objective lens,
KARYOTYPE
Using banded metaphase chromosomes;
Rules for making a karyotype

chromosomes are arranged and numbered

by size, from largest to smallest
Pairs of chromosomes are arranged by
chromosome morphology into groups
 CHROMOSOME KARYOTYPE GROUPS
Group A (large) = pairs 1, 2, 3 of chromosomes
pairs 1 si 3 - metacentric
pair 2 submetacentric
Group B (large, submetacentric) = pairs 4 and 5
Group C (medium) = pairs 6, 7, 8, 9, 10, 11, 12 + X
chromosome(s) (metacentric)
pair 6- metacentric
pairs 7, 8, 9, 10, 11,12 - submetacentric
Group D (medium, acrocentric, with satellites) = pairs 13, 14,
15
Group E (small) = pairs 16, 17, 18
pair 16 - metacentric
pairs 17, 18 - submetacentric
Group F (small, metacentric) = pairs 19, 20
Group G (small, acrocentric, with satellites) = pairs 21, 22 +
Y chromosome (acrocentric, WITHOUT satellites)
 NORMAL HUMAN KARYOTYPE

22 autosome pairs + XY/XX

7 groups (AG) + X, Y/X, X
 Chromosomes and Inheritance

A normal
human male
karyotype.
Human Genome Sequencing
31/10/00