Principles and Practice of Medical Genetics.

Abstract

Part 1 Basic principles: nature and incidence of genetic disease, A.E.Emery gene structure and function in eukaryotic organisms, C.J.Epstein molecular biology in relation to medical genetics, R.F.Mueller mutation in man, F.Vogel chromosomal basis of inheritance, O.J.Miller unifactorial inheritance, R.Skinner Bayesian methods in medical genetics, A.E.Emery segregation analysis, M.A.Spence population genetics, J.A.Sofaer gene mapping, U.Francke analysis of genetic linkage, J.Lalouel multifactoral inheritance, D.T.Bishop twins, J.A.Sofaer teratogenic agents, J.W.Hanson a clinical approach to the dysmorphic child, K.L.Jones. Part 2 Chromosome disorders: human cytogenic nomeclature, H.A.Lubs and P.S.Ing autosomal disorders, J.de Grouchy and C.Turleau sex chromosome abnormalities, A.de la Chapelle. Part 3 System disorders, neurological disorders: x-linked mental retardation and the marker x, H.A.Lubs infertility and recurrent abortion, A.C.Chandley genetics and prevention of neural tube defects, K.M.Laurence the convulsive disorders, G.C.Sutton hereditary disorders of the basal ganglia, R.Eldridge Huntington disease, P.M.Conneally hereditary ataxias and paraplegias, A.E.Harding autonomic and sensory disorders, F.B.Axelrod peripheral neuropathies, P.K.Thomas the phakomatoses, V.Riccardi demyelinating disorders, S.Bundey schizophrenia and major mood disorders, D.K.Kinney the presenile dementias, D.Vassilopoulos addictive disorders, H.W.Goedde mental retardation, H.W.Moser congenital myopathies, J.Z.Heckmatt the muscular dystrophies, A.E.Emery spinal muscular atrophies, J.H.Pearn myotonic dystrophy and related disorders, P.S.Harper myasthenia gravis, G.M.Fenichel motor neuronal diseases, J.Keleman the periodic paralyses, I.Gamstorp congenital blindness, M.Warburg optic atrophy, L.N.Went glaucoma - congenital and later onset, J.R.Henkenlively defects of the cornea, J.Sugar anomalies of the lens, Hans-R.Kock hereditary retinal and choroidal degenerations, J.R.Henkenlively retinoblastoma, D.F.Roberts and G.E.Aherne genetic aspects of strabismus, J.B.Bateman and S.J.Isenberg hereditary deafness, P.Beighton craniofacial disorders, M.Cohen abnormalities of pigmentation, C.J.Witkop Jr ichthyosiform dermatoses, H.P.Baden epidermolysis bullosa, T.Gedde-Dahl, Jr and I.Anton-Lampredth genetic disorders of the skin, L.A.Goldsmith the chandrodysplasias, D.L.Rimoin and R.S.Lachman disorders of bone density, D.O.Sillence. (Part Contents)