GROUPS- 4 and 9

08.10.2024- Class 1

09.10.2024- Class 2

10.10.2024- Class 3

11.10.2024- Class 5

14.10.2024- Class 4

CLASSES

8:00 -12.30

Department of Clinical Genetics

Collegium Pathologicum Building 3rd Floor

Class 1 (dr Renata Posmyk, Beata Stasiewicz-Jarocka, Barbara Panasiuk)

Part A- Basics of cytogenetics:

5. Clinical indications for karyotyping.
5. Collecting and preparation of biological material for cytogenetic testing.
5. Methods  of obtaining chromosomes from various tissues.
5. Steps of karyotyping.
5. Evaluation of chromosomes using different banding and molecular techniques (FISH).
5. Microscopic chromosome identification, breakpoints establishing.
5. Principles of karyotype report.
5. ISCN 2020- An International System .of Cytogenomic Nomenclature.
5. Normal human karyotypes.
5. Numerical and structural chromosomal aberrations, examples of karyotypes results and interpretation.
5. Division of chromosomal aberrations according to mechanism of formation and clinical effects.
5. Definition of balanced and unbalanced chromosomal aberrations.

5. X-chromosome inactivation- definition, relevance in clinical practice.

             Part B

5. Work with a microscope (searching for metaphases, identification of chromosomes, karyogramm preparation).
5. Karyotype writing.
5. Cytogenetic and clinical interpretation of constitutional chromosomal aberrations.

Class 2- dr Joanna Karwowska

Part A

Autosomal dominant disorders (AD)

5. Phakomatoses: NF1, NF2, Tuberous Sclerosis
5. Skeletal dysplasias: Achondroplasia, Apert, Crouzon, Pfeiffer, Muenke and TRP syndromes.
5. Fibrilinopathies: Marfan syndrome, Beals, Loeys-Dietz,
5. Collagenopathies: Ehlers-Danlos syndrome, Stickler, Osteogenesis imperfecta.
5. Elastopathy: Pseudoxantoma elasticum

Autosomal recessive disorders (AR)

5. Cystic fibrosis

v Metabolic disorders: albinism, phenyloketonuria, alkaptonuria,

5. Deafness

Modes of inheritance- X-linked dominant (XLD) and recessive (XLR).

5. Fragile-X syndrome
5. Coffin-Lowry syndrome
5. Hypertrichosis

5. Duchenne muscular dystrophy
5. Daltonism
5. Hemophilia type A

Mitochondrial disorders

Part B

5. Pedigree analysis.
5. Analysis of clinical cases.
5. Quiz

Class 3- dr Natalia Wawrusiewicz-Kurylonek

Part A

5. Chromosomal disorders: Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), mosaic trisomy 8 (Warkany syndrome), mosaic trisomy 9.
5. Sex chromosomes aberration: monosomy (Turner syndrome), Klinefelter syndrome.
5. Microdeletion syndromes

• Cri du chat syndrome,
• Wolf-Hirschorn syndrome,
• Di George syndrome,
• Williams syndrome,
• Smith-Magenis syndromes,
• Miller-Dieker syndrome
• Phelan-McDermin syndrome
• microdeletion15q13.3
• Definitions of Imprinting, UPD uniparental disomy, UPD 14.
• Examples: Angelman syndrome, Prader-Willi, Beckwith-Wiedemann,             Russell-Silver.

Part B

5. Analysis of clinical cases.
5. Genetic counselling.
5. Quiz.

Class 4a– dr Renata Posmyk

Part A

Hereditary cancers/syndromes

5. Hereditary breast and ovarian cancer syndromes: HBC, HBOC, HOC
5. Hereditary colon cancer syndromes: Lynch syndrome. FAP- familial adenomatous polyposis, Gardner, Peutz-Jeghers.
5. Other: Gorlin syndrome, Von Hippl-Lindau, Li-Fraumeni.

Part B

5. Analysis of clinical cases.
5. History taking, pedigree drawing and interpreation.
5. Genetic counselling.
5. Quiz

Class 4b- dr Natalia Wawrusiewicz-Kurylonek

Part A

Molecular genetic and cytogenetic techniques as a diagnostic tool in a clinical practice.

5. Main definitions. Mutation classification.
5. Types of biological materials used for DNA isolation.
5. Detection of mutations and other rearrangements.
5. Molecular laboratory techniques: microarray (aCGH), MLPA, FISH, PCR, PCR-RFLP, Real-Time PCR, ASA-PCR, QF-PCR, nucleic acid hybridization, sequencing (Sanger), NGS- New Generation Sequencing, WES- Whole Exome Sequencing, Trios NGS/WES.
5. Advantages and disadvantages of methods.

Part B

5. Analysis of molecular genetics reports.
5. Quiz

Class 5- dr Renata Posmyk/ Joanna Karwowska

5. Visiting  Occupational Therapy Workshops.

v Clinical examination of patients.

5. Evaluation of dysmorphic features.