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HUMAN GENETICS - PART 1....continued Modes of
Inheritance: The series of transparencies covers the basic
knowledge of formal genetics, illustrated with examples of medical
genetics. Compilation and text: Prof. Dr. med. Klaus Zerres (Institut
für Humangenetik, Universität Bonn) and Prof. Dr. med. Tiemo Grimm (Institut
für Humangenetik, Universität Würzburg).A. Autosomal dominant
inheritance - Autosomal dominant inheritance - Clinical appearance
of neurofibromatosis, multiple fibromas - Ditto., cafe au lait spots
- Pedigree of a family with neurofibromatosis - Clinical appearance
of cleft hand - Pedigree of a family with cleft hand - Pedigree of a
family with achondroplasia - Codominant mode of inheritance (AB0
blood groups) - B. Autosomal recessive mode of inheritance -
Autosomal recessive mode of inheritance - Probability of being
heterozygous for the relatives of a homozygous individual - Clinical
appearance of albinism - Albinism in animals - Pedigree of a family
with albinism - The decomposition of phenylalanine - Pedigree of a
family with phenylketonuria (pseudodominance) - Pedigree of a family
with deafmutism (genetic heterogeneity) - Heterozygosity-effects -
C. X-chromosomal inheritance - X-chromosomal recessive inheritance -
Colour plate for testing red-green-blindness - Pedigree of a family
with red-green-blindness - Clinical appearance of muscular dystrophy
of Duchenne type - Structure of the gene of muscular dystrophy -
Examples of changing's on deletions in the dystrophin gene -
Pedigree of families with muscular dystrophy - Clinical appearance
of haemophilia - Haemophilia A in the European aristocracy -
X-chromosomal dominant inheritance - Clinical appearance of
incontinentia pigmenti (Bloch-Sulzberger syndrome) - Pedigree of a
family with incontinentia pigmenti - D. Multifactorial inheritance -
Multifactorial inheritance (effect of threshold value) - Recurrence
risks of multifactorial inheritance - Clinical appearance of harelip
and cleft palate - Harelip and cleft palate due to amniotic bands -
Different causes of harelip and cleft palate - Clinical appearance
of the van der Woude syndrome - Pedigree of a family with van der
Woude syndrome - Clinical appearance of neural tube defects, spina
bifida - Ditto. anencephalus Clinical appearance of clubfoot -
Ditto. of psoriasis - Example of pyloric stenosis illustrating the
so-called "Carter-effect" - E. Mitochondrial inheritance -
Mitochondrial inheritance - Pedigree of a family with Leber’s optic
atrophy
Cytogenetics: Part II illustrates various types of human
cell cultures, the preparation of sex-chromatin (X- and Y-chromatin)
in normal and pathological states through analysis of Barr-bodies,
drumsticks and F-bodies. It also includes the analysis of metaphase
chromosomes by various banding techniques, including NOR- and
SCE-methods, and the most common types of chromosomal aberrations
and the phenotypic consequences. Secondary chromosomal aberrations
following exposure to clastogens and illustrating repair defects are
shown. The series ends with examples from the field of
tumourcytogenetics: leukemias and solid tumours. - Compilation and
text: Dr. rer. nat. Ulrike Gamerdinger, Dipl.-Biol. Katja Weiske and
Prof. Dr. Gesa Schwanitz (Institut für Humangenetik, Universität
Bonn). A. Cell cultures - Lymphocyte culture - Tissue culture -
Clones in tissue culture - Mitotic activity in tissue culture - B.
Sex chromatin - Barr bodies in cells of the hair bulb - Drumstick in
a mature segmented granulocyte - Two Barr bodies; karyotype 47,XXX -
F-body in a human lymphocyte - Two F-bodies; karyotype 47,XYY - C.
Chromosome staining and banding techniques - Uniform staining - GTG-banding
pattern - QFQ-banding pattern - RBA-banding pattern - C-banding
pattern - SCE (sister-chromatid-exchange) - Nucleolus organizing
region (NOR), silver staining - Normal karyotype with GAG banding
pattern - Paris nomenclature of chromosomes - D. Chromosomal
aberrations - Trisomy 21; karyotype - Boy with Down’s syndrome -
Simian crease in a boy with Down’s syndrome - Karyotype of a patient
with translocation trisomy 21 - Trisomy 13; karyotype - Trisomy 18;
karyotype - Ring chromosome 18; karyotype - Isochromosome X;
karyotype - Inversion 2; karyotype - Karyotype of a girl with
"cri-du-chat" syndrome - Child with "cri-du-chat" syndrome -
Pedigree of a family showing segregation of a reciprocal
translocation - Monosomy X; karyotype - Patient with Turner’s
syndrome (monosomy X) - Klinefelter’s syndrome; karyotype - Risk for
the birth of a child with chromosome aneuploidy - Chromosomal
findings in spontaneous abortions - Triploidy; karyotype -
Alterations of chorionic villi due to triploidy - E. Mutagenesis, clastogenes, tumour cytogenetics - Increased SCE rate - Mitosis with
multiple aberrations - Diagram of aberration types - Micronuclei -
Unspecific chromosome aberrations - Table of chromosome breakage
syndromes - Philadelphia chromosome in chronic myeloic leukaemia -
Marker chromosomes in solid tumours. |