Atlas of 30 OHP Transparencies size 22 x 28 cm, comprising 88 colour pictures, some with several component figures (drawings, diagrams, tables, graphs, anatomical pictures, photomicro- and macrographs, electron micrographs, clinical appearance of patients, pedigrees, karyotypes). Recent new developments in all fields of human genetics made a completely revised edition of this subject necessary. The two volumes covering human genetics incorporate the latest developments in research. The new brilliant visual material is highly informative. The detailed explanatory texts fulfil the didactic requirements of modern teaching.
Part 1. Modes of inheritance. The basic knowledge of formal genetics, illustrated with examples of medical genetics. Compilation and text: Prof. Dr. med. Klaus Zerres (Institut für Humangenetik, Universit?t 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 homzygous 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 changings on deletions in the dystrophin gene - Pedigree of families with muscular dystrophy - Clinical appearance of hemophilia - Hemophilia 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
Part 2. Cytogenetics. Types of human cell cultures, preparation of sex-chromatin in normal and pathological states, analysis of Barr-bodies, drumsticks and F-bodies. Analysis of metaphase chromosomes by banding techniques, including NOR- and SCE-methods, types of chromosomal aberrations and the phenotypic consequences. Secondary chromosomal aberrations following exposure to clastogens and repair defects. Tumorcytogenetics. - Compilation and text: Dr. rer. nat. Ulrike Gamerdinger, Dipl.-Biol. Katja Weiske and Prof. Dr. Gesa Schwanitz (Institut fŸr Humangenetik, Universit?t 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, tumor 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 leukemia - Marker chromosomes in solid tumors.
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