| The electrocardiogram and sex chromosome aneuploidy |
|
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|
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| Multiple epiphyseal dysplasia tarda |
|
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|
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| Klinefelter's syndrome, LSD usage and acute lymphoblastic leukemia |
|
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|
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| Congenital severe generalized muscle hypertonia during wakefulness: A distinct autosomal recessive disorder |
|
|
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|
|
|
|
| Focal dermal hypoplasia |
|
|
|
|
|
|
✓ |
✓ |
Mexican |
| Combination of hereditary elliptocytosis and hereditary spherocytosis |
|
|
|
|
|
|
|
|
|
| A syndrome of polydactyly‐syndactyly and triphalangeal thumbs in three generations |
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| Mental retardation associated with an unusual amino acid excretion pattern |
|
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|
|
| C3 polymorphism: Genetic linkage relations |
|
|
|
|
|
|
✓ |
✓ |
Norwegian |
| Addendum |
|
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|
|
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|
|
| Detection of inborn errors of metabolism |
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| Detection of inborn errors of metabolism |
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| Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings |
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| Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease |
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| The Aarskog syndrome in three brothers |
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|
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| 47, XY, t(9p+;11q+) in a male infant with multiple malformations |
|
✓ |
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|
|
| Electromyography of oral‐facial musculature in craniocarpaltarsal dysplasia (Freeman‐Sheldon syndrome) |
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| Hyperglycinuria in a family with autosomal dominantly inherited cataract |
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| Concordance rates for myopia in twins |
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| Hypophosphatasia: screening and family investigation |
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|
| <i>De novo</i> translocation Down's syndrome: Risk of recurrence of Down's syndrome |
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|
|
| Hereditary spastic paraplegia in Western Norway |
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|
| Prenatal chromosome determination. A study of 219 cases |
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| Paternal normal/trisomy 21 mosaicism as an indication for amniocentesis |
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| A lethal autosomal recessive entero‐colitis of early infancy |
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| Pattern of Y‐chromatin fluorescence in an XYY man |
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| Y‐chromatin fluorescence in human buccal smear |
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| Motor nerve conduction in 47, XXY and 48, XXYY males, and 47, XXX and 45, X females |
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| Reifenstein's syndrome: Investigation of linkage to X‐chromosomal loci |
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| Mosaic tetraploidy in a two‐year‐old female |
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|
| Longer Y chromosome in criminals |
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|
|
|
| Lp(a) lipoprotein and pre‐β<sub>1</sub>‐lipoprotein in patients with coronary heart disease |
|
|
|
|
|
|
✓ |
✓ |
Finnish CHD patients |
| Dermatoglyphics in Down's syndrome |
|
|
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|
|
|
| The Roberts syndrome |
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|
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|
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| Accurate identification of the human Y chromosome |
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| ABO blood groups and Australia antigen |
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|
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| Genetic and clinical relevance of haemoglobins screening: Results from a survey in a paediatric hospital |
|
|
|
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|
|
✓ |
✓ |
Cuban population |
| Corneal opacity, microphthalmia, mental retardation, microcephaly and generaIized muscular spasticity associated with hypergIycinemia |
|
|
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|
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|
|
| Immunological studies in ataxia‐telangiectasia |
|
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|
|
| A Meckel‐like syndrome? |
|
|
|
|
|
|
|
|
|
| Lack of chromosomal damaging effects by moderate doses of LSD <i>in vivo</i> |
|
|
|
|
|
|
|
|
|
| Complex five‐break rearrangement |
|
|
|
|
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|
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|
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| Total finger ridge count and 45, X mosaicism (with and without Y chromosome) |
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|
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|
|
| Cytogenetic studies in Fanconi's anemia. Description of a case with bone marrow clonal evolution |
|
|
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|
|
| The neck in the XO and XX/XO mosaic Turner's syndrome |
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|
|
| Klinefelter's and Down's syndrome in an adolescent with abnormal EEG |
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|
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|
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| Probably monozygotic twins with discordance for Goldenhar syndrome |
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|
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|
|
| XY/XYY mosaicism associated with major genital defects |
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|
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|
|
| Anthropometry in sex chromosome abnormality |
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|
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|
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|
|
| Detection of heterozygotes for myotonic dystrophy |
|
|
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|
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|
|
| The antenatal diagnosis of trisomy 18 |
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|
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|
|
| Spontaneous D/G translocation in fibroblasts derived from a patient with trisomy 21 mosaicism |
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|
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|
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|
|
| Addendum |
|
|
|
|
|
|
|
|
|
| Congenital metatarsus varus in four generations |
|
|
|
|
|
|
|
|
|
| Male pseudohermaphroditism with 45X/46XYq‐ mosaicism in a pair of monozygotic twins |
|
|
|
|
|
|
|
|
|
| Hereditary tyrosinemia in the province of Quebec: Prevalence at birth and geographic distribution |
|
|
|
|
|
|
|
|
|
| Application of a quantitative scoring system in the investigation of some hereditary neurologicaI disorders |
|
|
|
|
|
|
|
|
|
| FamiliaI aggregation in bilateral renal agenesis |
|
|
|
|
|
|
|
|
|
| Genetic counseling: an appraisal |
|
|
|
|
|
|
|
|
|
| A woman with multiple congenital anomalies, mental retardation and mosaicism for an unusual translocation chromosome t (6;19) |
|
|
|
|
|
|
|
|
|
| Incidence of chromosome aberrations in a child psychiatric hospital |
|
|
|
|
|
|
✓ |
✓ |
Danish children |
| X/XY mosaicism with short Y |
|
|
|
|
|
|
|
|
|
| Partial trisomy 13 in a case of Cyclopia with 13/14 translocation |
|
|
|
|
|
|
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|
|
| The genetic entity of hypochondroplasia |
|
|
|
|
|
|
|
|
|
| Muscle histology in fetuses at risk for Duchenne muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Idiopathic haemochromatosis: An autosomal recessive disease |
|
|
|
|
|
|
|
|
|
| Idiopathic haemochromatosis and diabetes mellitus |
|
|
|
|
|
|
|
|
|
| The relation of the sex of choreic and rigid subjects to the age at onset of Huntington's disease |
|
|
|
|
|
|
|
|
|
| Case report of an extra, small, acrocentric chromosome in a non‐mongoloid girl |
|
|
|
|
|
|
|
|
|
| Patient with Down's syndrome and male pseudohermaphroditism with a 47, XY, +21/46, X, +21 karyotype |
|
|
|
|
|
|
|
|
|
| An infant with an XXXYY karyotype |
|
|
|
|
|
|
|
|
|
| The manifesting carrier in Duchenne muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Autosomal recessive Cerebro‐Oculo‐Facio‐Skeletal (COFS) syndrome |
|
|
|
|
|
|
|
|
|
| The Cerebro‐Oculo‐Facio‐Skeletal syndrome |
|
|
|
|
|
|
|
|
|
| The MASA syndrome: A new heritable mental retardation syndrome |
|
|
|
|
|
|
✓ |
✓ |
Mexican‐American; Mexican ancestry; same ethnic background |
| Osteogenesis irnperfecta congenita |
|
|
|
|
|
|
✓ |
✓ |
black |
| Serum dopamine‐β‐hydroxylase levels in Down's syndrome |
|
|
|
|
|
|
|
|
|
| Frequency and segregation of 16qh+ |
|
|
|
|
|
|
|
|
|
| Complete failure of eruption of all permanent teeth: An autosomal dominant disorder |
|
|
|
|
|
|
|
|
|
| Familial neuromuscular disease with “myotubes“ |
|
|
|
|
|
|
|
|
|
| Pedigree analysis to determine the mode of inheritance in a family with retinitis pigmentosa |
|
|
|
|
|
|
|
|
|
| X‐linked idiopathic thrombocytopenia |
|
|
|
|
|
|
|
|
|
| Lysosomal enzyme levels in human amniotic fluid cells in tissue culture: II. α‐galactosidase, β‐galactosidase and α‐arabinosidase |
|
|
|
|
|
|
|
|
|
| Lysosomal enzyme levels in human amniotic fluid cells in tissue culture: III, β‐glucuronidase, N‐acetyl‐β‐D‐glucosaminidase, α‐mannosidase and acid phosphatase |
|
|
|
|
|
|
|
|
|
| Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli |
|
|
|
|
|
|
|
|
|
| An example of rapid prenatal diagnosis of Fabry's disease usingmicrotechniques |
|
|
|
|
|
|
|
|
|
| The National Foundation ‐ March of Dimes |
|
|
|
|
|
|
|
|
|
| Hereditary splenomegaly with hypersplenism |
|
|
|
|
|
|
|
|
|
| The XYY Syndrome: Reality or Myth? |
|
|
|
|
|
|
|
|
|
| Dermatoglyphics in Down's syndrome IV. Evaluation of the use of dermatoglyphic discriminants after the topological classification of constituent characters |
|
|
|
|
|
|
✓ |
✓ |
"Dutch individuals" and "individuals in Great Britain" |
| Sex ratio among normal sibs of persons with Turner's syndrome |
|
|
|
|
|
|
|
|
|
| The distributions of seven genetic polymorphisms in patients with Down's syndrome |
|
|
|
|
|
|
|
|
|
| Trisomy 18 mosaicism in two siblings |
|
|
|
|
|
|
|
|
|
| “Cri du chat” syndrome with maternal insertional translocation |
|
|
|
|
|
|
|
|
|
| Congenital dislocation of the hip joint in Norway V. Evaluation of genetic and environmental factors |
|
|
|
|
|
|
|
|
|
| Studies on hair roots for carrier detection in hypoxanthine‐guanine phosphoribosyl transferase deficiency |
|
|
|
|
|
|
|
|
|
| Retinoblastoma and long arm deletion of chromosome 13. Attempts to define the deleted segment |
|
|
|
|
|
|
|
|
|
| The prevalence of diabetes mellitus: A study of children and their relatives in a northern Swedish county |
|
|
|
|
|
|
|
|
|
| The <i>N</i> syndrome, a “new” multiple congenital anomaly‐mental retardation syndrome:Studies of malformation syndromes in man XXVII |
|
|
|
|
|
|
|
|
|
| Fluorescent chromosome polymorphisms: frequencies and segregations in a Dutch population |
|
|
|
|
|
|
✓ |
✓ |
Dutch population |
| Trisomy 8 in bone marrow cells of patients with polycythemia vera and myelogenous leukemia |
|
|
|
|
|
|
|
|
|
| Spino‐cerebellar ataxia in Western Norway |
|
|
|
|
|
|
|
|
|
| Early prenatal diagnosis; A study of biopsy techniques and cell culturing from extraembryonic membranes |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis: detailed chromosomal analysis in 500 cases |
|
|
|
|
|
|
|
|
|
| An XYY baby with Prader syndrome |
|
|
|
|
|
|
|
|
|
| Announcement |
|
|
|
|
|
|
|
|
|
| Taurodontism in X‐chromosome aneuploid syndromes |
|
|
|
|
|
|
|
|
|
| The sex‐ratio of children born to parents affected with Huntington's disease |
|
|
|
|
|
|
|
|
|
| <b>Genetics of obstetrical variables. A study from the collaborative perinatal project</b><b>*</b> |
|
|
|
✓ |
|
|
|
|
|
| Are 1q+ chromosomes harmless? |
|
|
|
|
|
|
|
|
|
| Hurler/Scheie genetic compound (mucopolysaccharidosis IH/IS) in Japanese brothers |
|
|
|
|
|
|
✓ |
✓ |
Japanese |
| <b>Trisomy for the short arm of chromosome No. 10</b> |
|
|
|
|
|
|
|
|
|
| Adult‐onset hereditary cerebellar ataxia and neurosensory deafness |
|
|
|
|
|
|
|
|
|
| Announcement |
|
|
|
|
|
|
|
|
|
| Bisatellited extra small metacentric chromosome in newborns |
|
|
|
|
|
|
✓ |
✓ |
Danish |
| A case with 46, XX, del (11) (q21) |
|
|
|
|
|
|
|
|
|
| A linkage study of phenylketonuria |
|
|
|
|
|
|
|
|
|
| Hereditary dextrocardia associated with other congenital heart defects: Report of a pedigree |
|
|
|
|
|
|
|
|
|
| Chromosomes and human infertility. I. Mitotic and meiotic chromosome studies in 202 consecutive male patients |
|
|
|
|
|
|
|
|
|
| On the relationship between Lp(a) Iipoprotein, “sinking pre‐β‐lipoprotein” and inherited hyper‐β‐lipoproteinaemia |
|
|
|
|
|
|
|
|
|
| Cerebellar ataxia and total albinism: A kindred suggesting pleiotropism or linkage |
|
|
|
|
|
|
|
|
|
| Increased Q fluorescence of an inactive Xq— chromosome in man |
|
|
|
|
|
|
|
|
|
| The heritability of serum lipoprotein and lipid concentrations. A twin study |
|
|
|
|
|
|
|
|
|
| A patient with a dicentric Y chromosome |
|
|
|
|
|
|
|
|
|
| A familial 10/13 translocation: partial trisomy C in an infant associated with familial 10/13 translocation |
|
|
|
|
|
|
|
|
|
| Cytogenetics, hormones and behavior disability: comparison of XYY and XXY syndromes |
|
|
|
|
|
|
|
|
|
| <i>In vitro</i> autoradiographic studies of DNA synthesis in human testis with spermatogenic arrest |
|
|
|
|
|
|
|
|
|