Clinical genetics

General aspects and laboratory diagnostics

 Clinical genetics
The part of the clinical medicine that investigates patients
with hereditary disorders

involves study, counselling, diagnosis and treatment

includes a large scale of disorders and syndromes related to

birth defects, dismorphology, mental retardation, epilepsy,
developmental delay, autism, skeletal dysplasia, etc.
 Types of genetic disorders:

caused by chromosomal aberrations

numerical disorder (aneuplody)
structural abnormalities (deletion, duplication, translocation,
inversion, ring chromosomes, isochromosomes)
mitochondrial disorders
monogenetic disorders
multifactorial and polygenic disorders
 Clinical genetics
The part of the clinical medicine that investigates patients
with hereditary disorders

involves study, counselling, diagnosis and treatment

includes a large scale of disorders and syndromes related to

birth defects, dismorphology, mental retardation, epilepsy,
developmental delay, autism, skeletal dysplasia, etc.
Genetic counselling

- providing information about genetical

disorders inheritance, prognosis,
clinical aspects

- anamnesis

- pedigree

- sample collection for laboratory

diagnostics

- interpretation of results
 Clinical genetics
The part of the clinical medicine that investigates patients
with hereditary disorders

involves study, counselling, diagnosis and treatment

includes a large scale of disorders and syndromes related to

birth defects, dismorphology, mental retardation, epilepsy,
developmental delay, autism, skeletal dysplasia, etc.
Cytogenetic testing methods

Karyotyping Flourescent in situ hybridization

Comparative genome hybridization

Molecular genetic testing methods

PCR Sequencing

NGS
 Chromosome analysis - Karyotyping
A karyotype is an organized profile of a person's
chromosomes

the chromosomes are arranged in pairs (1-22, X, Y) in order of

size, centromere position and banding pattern in different
groups (A, B, C, D, E-F, G)

the chromosomes provide from the metaphase of mitotic

cells (lymphocyte, amniotic fluid cells, fibroblast, other
somatic cells)
Chromosomes arranged in groups (Giemsa staining)
 Culture of Peripheral Blood Lymphocytes for
Chromosome Analysis
Steps:
inoculation of the heparinazed whole blood into
the liquid culture medium
incubation
blocking of mitosis
hypotonization
fixation
slide preparation and staining
banding techniques
Chromosome banding techniques

ASG banding C-banding

Q-banding R-banding
Completed karyotype
Thank you for your attention!