ENGLISH DIVISION
Faculty of Medicine, III YEAR OF STUDY (6th semester),
February − June 2013 y.


lectures 20 hrs
tutorials and seminars
40 hrs
Final one−choice test at the end of the semester.
General Rules and Regulations for Completing Clinical Genetics Course
Course content
 Clinical tutorials
 Laboratory seminars
 Lectures
List of textbooks
GENERAL RULES AND REGULATIONS FOR COMPLETING
CLINICAL GENETICS COURSE
This course comprises a series of tutorials, laboratory seminars and lectures. The
tutorials will mostly concentrate on genetic counselling in various clinical settings, the
laboratory seminars will feature presentations of laboratory methods and techniques used in
diagnosing genetic diseases. The lectures will introduce the basic concepts of mutagenesis and
molecular biology of cancer.
To pass the course it is necessary to attain a pass on the continuous assessment and to
attain a positive grade on the end-of-course examination. For the continuous assessment mark,
students will be assessed throughout the course, in the form of regular review by their course
tutors (that includes two written test). There will be an examination at the end of the semester
based upon the whole course. If a student should fail on the continuous assessment he/she will
be not allowed to sit the examination. The student will get a chance to write a final test based
on the tutorial and seminar material. Only then the student will be offered the opportunity to
take the examination.
Attendance at the tutorials and laboratory seminars is compulsory. Students can miss
one seminar or a tutorial without any repercussions. If the student misses more than one,
he/she should report to the Dean’s Office with an appropriate document stating the reasons of
absence. A copy should be presented to the tutor. There will be a chance to discuss the
omitted material at the end of the semester. Otherwise the student will fail on the continuous
assessment.
Students should prepare for each of the tutorials and laboratory seminars. The student
should be ready to discuss the clinical case and know the theory behind it.
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COURSE
CONTENT
Laboratory seminars:
1. BASIC DEFINITIONS I
DNA and RNA structure, replication, transcription, translation, the genetic code, gene,
chromosome, euchromatin, heterochromatin, types of mutations
2. BASIC DEFINITIONS II
mitosis, meiosis, cell cycle, crossing-over, euploidy, aneuploidy, polyploidy, allele, locus,
genotype, phenotype, karyotype, translocations, deletions, ring chromosomes,
duplications, inversions, isochromosomes
3. CHROMOSOME ANALYSIS, KARYOTYPING AND ISCN
4.
FISH
5. METHODS OF MOLECULAR DIAGNOSIS I AND II
6. LABORATORY INVESTIGATIONS OF CANCER, METHODS OF DETECTING CHROMOSOME
INSTABILITY
Clinical tutorials:
1. BIRTH DEFECTS
1.1. Congenital abnormalities – definition.
1.2. Epidemiology of congenital defects
1.3. Genetic and environmental (infectious, physical, chemical) causes of birth defects
1.4. Genetic counselling
1.5. Classification of congenital defects
1.1. Family history and pedigree drawing
1.2. Dysmorphology.
2. MULTIFACTORIAL DISORDERS
2.1. Multifactorial disorders – definition and rules.
2.2. Epidemiology
2.3. Genetic counselling
1.3. Neural tube defects
1.4. Cleft lip and palate
1.1. Maternal metabolic diseases (PKU, diabetes)
1.2. TORCH infection of a newborn
1.3. Multifactorial disorders in adults
CASE REPORT 1: Ultrasound scanning reveals a neural tube defect at 20 weeks of
pregnancy
2. NUMERICAL CHROMOSOME ABERRATIONS
2.1. Family history and pedigree drawing
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2.2. Clinical features of most common syndromes caused by numerical chromosome
aberrations:
2.2.1. Down syndrome
2.2.2. Patau syndrome
2.2.3. Edward syndrome
2.3. Laboratory investigations (chromosome analysis, FISH)
2.4. Genetic counselling
2.5. Management and prognosis
2.6. Prenatal diagnosis
CASE REPORT: A two months old boy with Down syndrome
3. STRUCTURAL CHROMOSOME ABERRATIONS
3.1. Types of structural aberrations (translocations, deletions, ring chromosomes,
duplications, inversions, isochromosomes)
3.2. Genomic imprinting
3.3. Clinical features of syndromes caused by structural chromosome aberrations:
3.3.1. cri-du-chat syndrome
3.3.2. Wolf-Hirschhorn syndrome
3.3.3. Prader-Willi syndrome
3.3.4. Angelman syndrome
3.3.5. Miller-Dieker syndrome
3.3.6. DiGeorge syndrome
3.3.7. Williams syndrome
3.4. Possible laboratory investigations
3.5. Genetic counselling
3.6. Management and prognosis
3.7. Prenatal diagnosis
CASE REPORT 1: A newborn baby with dysmorphic features and a cat-like cry
CASE REPORT 2: A four-year-old girl with behavioural problems and obesity
4. AUTOSOMAL DOMINANT INHERITANCE
4.1. Rules for autosomal dominant inheritance. Expressivity. Penetrance. Mosaicism
(somatic and germ-line)
4.2. Non-mandelian patterns of inheritance. Dynamic mutations. Anticipation
4.3. Clinical features of:
4.3.1. achondroplasia
4.3.2. neurofibromatosis type 1
4.3.3. Marfan syndrome
4.3.4. osteogenesis imperfecta
4.3.5. familial hypercholesterolemia
4.3.6. Huntington disease
4.3.7. Alzheimer disease
4.3.8. adult polycystic kidney disease
4.4. Possible laboratory investigations
4.5. Genetic counselling – risk estimation
4.6. Management and prognosis
4.7. Prenatal diagnosis
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CASE REPORT 1: A seven-year-old boy with “cafe au lait” spots
CASE REPORT 2: A family with Huntington disease
5. AUTOSOMAL RECESSIVE INHERITANCE
5.1. Rules for autosomal recessive inheritance. Carrier. The role of consanguinity.
Founder effect
5.2. Clinical features of:
5.2.1. cystic fibrosis
5.2.2. phenylketonuria
5.2.3. alcaptonuria
5.2.4. albinism
5.2.5. sickle cell anaemia
5.2.6. Tay-Sachs disease
5.2.7. mucopolysaccharidosis
5.2.8. Smith−Lemli−Opitz syndrome
5.3. Possible laboratory investigations
5.4. Genetic counselling – risk estimation
5.5. Management and prognosis
5.6. Prenatal diagnosis
CASE REPORT: Frequent chest infections in an 8-month-old infant
6. SEX-RELATED INHERITANCE
6.1. Rules for sex-related inheritance
6.2. Clinical features of:
6.2.1. haemophilia A
6.2.2. haemophilia B
6.2.3. fragile X syndrome
6.2.4. hypophosphatemia
6.2.5. Duchenne dystrophy
6.2.6. Becker dystrophy
6.2.7. Rett syndrome
6.3. Possible laboratory investigations
6.4. Genetic counselling – risk estimation
6.5. Management and prognosis
6.6. Prenatal diagnosis
CASE REPORT: Two brothers with muscular dystrophy
7. SEX DIFFERENTIATION
7.1. The role of X and Y chromosomes in sexual differentiation
7.2. Chromosomal and single-gene causes of sexual differentiation anomalies
7.3. Clinical features of:
7.3.1. Klinefelter syndrome
7.3.2. Turner syndrome
7.3.3. 47,XYY syndrome
7.3.4. CAIS
7.3.5. congenital adrenal hyperplasia
7.4. Possible laboratory investigations
7.5. Genetic counselling – risk estimation
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7.6. Management and prognosis
7.7. Prenatal diagnosis
CASE REPORT 1: Short stature in an 8-year-old-girl
CASE REPORT 2: A girl with a 46,XY karyotype
8. FAMILIAL AND INHERITED CANCERS
8.1. Family history and pedigree drawing
8.2. Indicators of inherited cancer
8.3. Indications for genetic testing of cancer patients
8.4. Possible laboratory investigations
8.5. Genetic counselling and the role of prophylaxis
CASE REPORT: Breast and ovarian cancer in a 42-year-old woman
9. INFERTILITY
9.1. Causes of miscarriages
9.2. The role of ultrasonography in diagnosing congenital abnormalities
9.3. Genetic counselling for reciprocal translocation carriers
9.4. Male infertility
9.5. The Y chromosome deletion map
9.6. Chromosome analysis, CFTR mutations, factor V mutations
CASE REPORT: A couple wishes to know if there could be a genetic cause for their three
spontaneous miscarriages...
10.PRENATAL SAMPLING
10.1.
Non-invasive procedures:
10.1.1. ultrasound scanning
10.1.2. screening of maternal blood
10.2.
Invasive procedures:
10.2.1. chorionic villus sampling
10.2.2. amniocentesis
10.2.3. cordocentesis
10.3.
Indications for prenatal diagnosis
10.4.
Legal and ethical aspects of prenatal diagnosis
10.5.
Reproductive genetic counselling
CASE REPORT: Ultrasound diagnosis of congenital abnormalities at 16 weeks of pregnancy
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LIST
MAIN
OF TEXTBOOKS
:
BOKKS
1. Essential Medical Genetics – Michael Connor, Malcolm Ferguson-Smith
2. Emery’s Elements of Medical Genetics −P.Turnpenny, S.Ellard
3. New Clinical Genetics − Andrew read, Dian Donnai
4. Genetics – Jan M. Friedman, Fred J. Dill, Michael R. Hayden, Barbara C. McGillivray
Additional books:
5. Molecular Diagnosis of Genetic Diseases – Rob Elles
6. A practical guide to Human Cancer Genetics, III ed., S.V. Hodgson, W.D. Foulkes, C.
Eng, E.R. Maher
7. Medical Genetics at a Glance – Dorian J. Pritchard, Bruce R. Korf
8. The Genetic Basis of Human Cancer – Bert Vogelstein, Kenneth W. Kinzler
9. The Metabolic & Molecular Basis of Inherited Disease – Charles R. Scriver, Arthur L.
Beaudet, William S. Sly, David Valle
10. Emery and Rimoin’s Principles and Practice of Medical Genetics – David L. Rimoin,
J. Michael Connor
11. Human Genetics; A problem-based approach – Bruce R. Korf
12. Genetics − Eberhard Passarge
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