Landmarks in Medical Genetics: Classic Papers with Commentaries Book

	Introduction
1	Huntington's Disease	3
	On Chorea (1872)
2	Hemophilia	6
	Account of a Remarkable Haemorrhagic Disposition, Existing in Many Individuals of the Same Family (1813)
3	Duchenne Muscular Dystrophy	10
	On Granular and Fatty Degeneration of the Voluntary Muscles (1852)
4	Hereditary Hemorrhagic Telangiectasia	16
	On a Family Form of Recurring Epistaxis, Associated with Multiple Telangiectases of the skin and Mucous Membranes (1901)
5	Phenylketonuria	22
	The Excretion of Phenylpyruvic Acid in the Urine, an Anomaly of Metabolism in Connection with Imbecility (1934)
6	Alkaptonuria and Autosomal Recessive Inheritance	29
	The Incidence of Alkaptonuria: A Study in Chemical Individuality (1902)
7	Autosomal Dominant Inheritance in Brachydactyly	35
	Inheritance of Digital Malformations in Man (1905)
8	Human Mendelian Inheritance	41
	Evidence as to Mendelian Inheritance in Man (1909)
9	The Sex Chromosomes	53
	The Sex Chromosomes (1911)
10	Mendelian Proportions in a Mixed Population	62
	Mendelian Proportions in a Mixed Population (1908)
11	The Chromosome Number of Man	67
	The Chromosome Number of Man (1956)
12	An Extra Chromosome in Down's Syndrome	72
	Study of the Somatic Chromosomes of Nine Mongoloid Children (1959)
13	Sex Chromosome Anomalies, XXY	74
	A Case of Human Intersexuality Having a Possible XXY Sex-determining Mechanism (1959)
14	Sex Chromosome Anomalies, Turner Syndrome	74
	A Sex-chromosome Anomaly in a Case of Gonadal Dysgenesis (Turner's Syndrome) (1959)
15	Chromosomes and Spontaneous Abortion	80
	Chromosome Studies in Spontaneous Abortions (1965)
16	Fluorescence Patterns of Human Chromosomes	92
	The 24 Fluorescence Patterns of the Human Metaphase Chromosomes - Distinguishing Characters and Variability (1971)
17	Chromosome Abnormality in Leukemia I	103
	A Minute Chromosome in Human Chronic Granulocytic Leukemia (1960)
18	Chromosome Abnormality in Leukemia II	103
	A New Consistent Chromosomal Abnormality in Chronic Myelogenous Leukaemia Identified by Quinacrine Fluorescence and Giemsa Staining (1973)
19	The ABO Blood Group System	111
	On Agglutination Phenomena of Normal Human Blood (1901)
20	Linkage Between Color-blindness and Hemophilia
	The Linkage between the Genes for Colour-blindness and Haemophilia in Man (1937)	115
21	Duffy Blood Group Locus and Chromosome 1	130
	Probable Assignment of the Duffy Blood Group Locus to Chromosome 1 in Man (1968)
22	Human-Mouse Hybrid Cell Lines	135
	Human-Mouse Hybrid Cell Lines Containing Partial Complements of Human Chromosomes and Functioning Human Genes (1967)
23	A Genetic Linkage Map in Man	141
	Construction of a Genetic Linkage Map in Man Using Restriction Fragment Length Polymorphisms (1980)
24	A DNA Marker Linked to Huntington's Disease	152
	A Polymorphic DNA Marker Genetically Linked to Huntington's Disease (1983)
25	Cloning of DNA in an X Chromosome Deletion Patient	160
	Specific Cloning of DNA Fragments Absent from the DNA of a Male Patient with an X Chromosome Deletion (1985)
26	Inborn Errors of Metabolism	169
	The Inborn Errors of Metabolism (1908)
27	Phenylketonuria II
	Phenylketonuria: A Problem in Eugenics (1946)	179
28	Glycogen Storage Disease	187
	Glucose-6-phosphatase of the Liver in Glycogen Storage Disease (1952)
29	Enzyme Polymorphisms	191
	Enzyme Polymorphisms in Man (1966)
30	Sickle Cell Anemia	199
	Sickle Cell Anemia, a Molecular Disease (1949)
31	Protection against Malaria in Sickle Cell Trait	205
	Protection Afforded by Sickle-cell Trait against Subtertian Malarial Infection (1954)
32	Gene Mutations in Human Hemoglobin	212
	Gene Mutations in Human Haemoglobin: The Chemical Difference between Normal and Sickle Cell Haemoglobin (1957)
33	A Structure for DNA	215
	Molecular Structure of Nucleic Acids. A Structure for Deoxyribose Nucleic Acid (1953)
34	Cytoplasmic Inheritance and Leber's Disease	221
	A Probable Case of Cytoplasmic Inheritance in Man: A Critique of Leber's Disease (1936)
35	Gene Action in the X-chromosome	225
	Gene Action in the X-chromosome of the Mouse (Mus musculus L.) (1961)
36	Anticipation in Myotonic Dystrophy I	228
	The Problem of Anticipation in Pedigrees of Dystrophia Myotonica (1948)
37	Anticipation in Myotonic Dystrophy II	228
	Anticipation in Myotonic Dystrophy: Fact or Fiction? (1989)
38	Maternally and Paternally Derived Chromosome Regions	244
	Differential Activity of Maternally and Paternally Derived Chromosome Regions in Mice (1985)
39	Retinoblastoma	248
	Mutation and Cancer: Statistical Study of Retinoblastoma (1971)
40	Phenylalanine Intake and Phenylketonuria	257
	Influence of Phenylalanine Intake on Phenylketonuria (1953)
41	Pathogenesis of Erythroblastosis Fetalis	260
	The Role of Iso-immunization in the Pathogenesis of Erythroblastosis Fetalis (1941)
42	Prevention of Rh Hemolytic Disease	268
	Experimental Studies on the Prevention of Rh Haemolytic Disease (1961)
43	Antenatal Diagnosis of Sickle Cell Anemia	275
	Antenatal Diagnosis of Sickle-cell Anaemia by D.N.A. Analysis of Amniotic-fluid Cells (1978)
44	Carrier Screening for Tay-Sachs Disease	279
	Heterozygote Detection in Tay-Sachs Disease: A Prototype Community Screening Program for the Prevention of Recessive Genetic Disorders (1972)
45	Prevention of Neural-tube Defects
	Possible Prevention of Neural-tube Defects by Periconceptional Vitamin Supplementation (1980)	285
46	Radiation and the Sex Ratio	291
	Radiation and the Sex Ratio in Man. Sex Ratio among Children of Survivors of Atomic Bombings Suggests Induced Sex-linked Lethal Mutations (1958)
47	The Geneticists Manifesto	298
	Men and Mice at Edinburgh (1939)
	Index	303