CONTENT:
Genetic Methods.
Cytogenetic analysis of chromosomes.
Cell Cultures
Whole blood culture:
Bone marrow culture:
Banding techniques
Molecular cytogenetics
Acquiring cytogenetic diagnosis by microscope analysis
Drawing a pedigree.
Autosomal dominant inheritance
Autosomal recessive inheritance
X linked recessive inheritance
X linked dominant inheritance
Chromosomal disorders
Numerical autosomal chromosomal disorders
Down syndrome (Trisomy 21)
Prenatal diagnosis of Down‘s syndrome and other common chromosomal aberrations
Patau syndrome (Trisomy 13)
Edwards syndrome (Trisomy 18)
Structural autosomal aberrations
Partial monosomy
Partial trisomy
Gonosomal chromosomal disorders.
Turner syndrome
Polysomy X
Klinefelter syndrome
Fraccaro Syndrome
Polysomy Y
Single gene disorders
Methods of DNA analysis
Southern blot hybridization
Polymerase chain reaction (PCR)
Linkage analysis – indirect method for DNA analysis
Autosomal recessive disorders
Cystic fibrosis
Congenital Adrenal Hyperplasia
Spinal Muscular Atrophy
Metabolic disorders
Phenylketonuria (PKU)
Glycogen Storage Disease Type II (Pompe Disease)
Mucopolysaccharidosis
Wilson Disease
Hemoglobinopathy
Beta-Thalassemia
Autosomal dominant disease
Trinucleotide repeat disorders
Huntington Chorea
Myotonic Dystrophy
Neurofibromatosis
Achondroplasia
Osteogenesis imperfect
Polycystic Kidney Disease, Autosomal Dominant
Polycystic Kidney Disease, Autosomal Recessive
Sex-linked inheritance
X-recessive disorder
Dystrophinopathies
Hemophilia A
Wiskott - Aldrich syndrome
Glucose-6-phosphate dehydrogenase deficiency
Moris Syndrome(Androgen Insensitivity Syndrome)
X linked dominant inheritance
FMR1-Related Disorders
Incontinentia Pigmenti
Non-mendelian inheritance
Prader-Willy Syndrome
Multiple factor inheritance
Defects of the neural tube
Facial cleft
Refference: