| Impact of genetic counseling: A review of published follow‐up studies |
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| Lyon phenomenon in ouabain‐treated erythrocytes of Duchenne muscular dystrophy carriers as revealed by cell electrophoresis |
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| A pericentric inversion of chromosome 9 and a rearrangement involving chromosomes 9 and 10, observed in two generations. Clinical description of chromosome 9 (p12‐p21) deletion syndrome |
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| High alkaline phosphatase activity in isoproterenol stimulated fibroblast cultures from patients with numerically unbalanced chromosomal aberrations |
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| Prenatal diagnosis of thrombocytopenia with absent radii |
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| Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship |
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✓ |
✓ |
Neapolitan |
| Dizygosity of discordant twins with Noonan syndrome |
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| Additions to the myotonic dystrophy linkage group |
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| Satellite DNA loss and nucleolar organiser activity in an individual with a de novo chromosome 13,14 translocation |
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| A major locus for hyper‐β‐lipoproteinemia with xanthomatosis |
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| Partial trisomy 1q syndrome |
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| Partial trisomy 1q due to tandem duplication |
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| Accessory small chromosomes in amniotic fluid cells |
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| Hallervorden‐Spatz disease |
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probably originated in Europe |
| A new presumably autosomal recessive form of the Ehlers‐Danlos syndrome |
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| Partial trisomy 12q associated with a familial translocation |
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| Alcohol metabolizing enzymes: Studies of isozymes in human biopsies and cultured fibroblasts |
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✓ |
✓ |
Japanese |
| Counseling problems when twins are discovered at genetic amniocentesis |
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| A patient with a 47, XXY,5p‐ karyotype |
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| Recurrence risks for congenital hydrocephalus |
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| Distal trisomy 17q |
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| Genetic markers in individuals with a 5p‐ karyotype |
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| Prenatal diagnosis of sialidosis with combined neuraminidase and ø‐galactosidase deficiency |
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| XY sex‐reversed campomelia ‐ possibly an X‐linked disorder? |
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| A case of cyclopia Role of environmental factors |
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| Evolutionary conservation of large chromosomal segments reflected in mammalian gene maps |
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| Anthropometry in the Cri du Chat syndrome |
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| A suggestion of linkage between the Marfan syndrome and the rhesus blood group |
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| Down's syndrome in Western Australia: mortality and survival |
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| Chromosomal variants in mentally retarded and normal men |
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| Catecholamine metabolism in familial amyloid polyneuropathy |
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| Long‐term complications in Hunter's syndrome |
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| Prader‐Willi syndrome and chromosomal mosaicism 46, XY/47, XY, + mar in two cases |
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| Oculodento‐osseous dysplasia: heterogeneity or variable expression? |
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Dutch descent |
| Two abnormal clones in the bone marrow cells of a patient with paroxysmal nocturnal hemoglobinuria |
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| Discovery of an inherited bisatellited metacentric microchromosome in amniotic cell culture |
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| A chromosome survey of a hospital for the mentally subnormal |
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| Five familial cases with a trisomy 16p syndrome due to translocation |
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| The Japanese Society of Human Genetics |
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| International Symposium |
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| Linkage analysis using heterozygote detection in phenylketonuria |
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| Familial cardiomyopathy: Autosomally, dominantiy inherited congestive cardiomyopathy with two cases of septal hypertrophy in one family |
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| Familial congenital diaphragmatic hernia: Prenatal diagnostic approach and analysis of twelve families |
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| A reciprocal translocation (X;11) in a female with gonadal dysgenesis |
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| Fanconi's anemia: terminal leukemia and “Forme fruste” in one family |
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| The Aarskog (facio‐digito‐genital) Syndrome |
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| Retinal manifestations in familial juvenile nephronophthisis |
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| Uncultured cells in amniotic fluid from normal and abnormal foetuses |
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| Healthy female carriers of a gene for the Alport syndrome: Importance for genetic counseling |
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| C‐heteromorphism in chromosome no. 6 |
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| Announcement |
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| Genetic basis of acquired C4 deficiency |
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| An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome) |
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| Phenotypic variation in two patients with a ring chromosome 22 |
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| Prenatal diagnosis of galactosaemia in six pregnancies' possible complications with rare alleles of the galactose 1‐phosphate uridyl transferase locus |
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| Lumbar kyphosis in Hunter's disease (MPS II) |
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| Inheritance of microtia and aural atresia in a family with five affected members |
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| A distinct variant of the Ehlers‐Danlos syndrome |
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| Interstitial deletion 13q33 resulting from maternal insertional translocation |
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| Lp(a) phenotypes, other lipoprotein parameters, and a family history of coronary heart disease in middle‐aged males |
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| Heterozygote detection in glucose‐6‐phosphate dehydrogenase deficiency: limitation of hair follicle analysis |
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| Human amniotic fluid CX‐L‐fucosidase |
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| Fanconi's anaemia associated with haemophilia A |
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| Hereditary angioedema: Lack of close linkage with markers on chromosome 6, with data on other markers |
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| Mucopolysaccharides in osteochondrodysplasias |
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| Down syndrome due to 21;21 translocation in a male twin |
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| Chromosome variants and abnormalities detected in 51 married couples with repeated spontaneous abortions |
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| Complete and partial trisomy of different segments of chromosome 8: case reports and review |
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| Frontometaphyseal dysplasia with congenital urinary tract malformations |
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| The dermatoglyphic pattern of the trisomy 9p syndrome |
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| Confirmation of an influence of the inherited Lp(a) variation on serum insulin and glucose levels |
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| Antenatal diagnosis in three pregnancies at risk for mannosidosis |
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| A rapid and simple Sandwich‐Method used for chromosome analysis from small fetal and adult biopsy specimens |
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| Positive H‐Y antigen testing in a case of XY gonadal absence syndrome |
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| On counselling in twin pregnancies discovered at amniocentesis |
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| Platelet monoamine oxidase in a pedigree with schizophrenia: an interlaboratory project |
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| Analysis of family resemblance for lipids and lipoproteins |
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| Benign sickle cell disease in Saudi Arabia: survival estimate and population dynamics |
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✓ |
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| Hereditary hypoceruloplasminemia |
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| Trisomy 13 in bone marrow cells in acute myelocytic leukemia and myelofibrosis |
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| Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas |
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| Genetic studies in a family with inverted nipples (mammillae invertita) |
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✓ |
✓ |
Jewish Sephardi |
| Prenatal diagnosis of severe congenital malformations associated with elevated amniotic fluid alpha–feto protein |
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| Bloom's Syndrome. VII. Progress report for 1978 |
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| Physiopathology of the Human Ovary 1979 Birth Defects Conference |
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| Prenatal monitoring for the Hunter syndrome: The heterozygous female fetus |
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| Uttrastructure of skin biopsy specimens in lysosomal storage diseases: Common sources of error in diagnosis |
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| A simple method to detect linkage for rare recessive diseases: An application to juvenile diabetes |
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| Electronic data processing in the Danish Cytogenetic Central Register and EDP problems of registers in general |
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| Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation |
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| Monoamine oxidase and catechol‐o‐m ethyl transferase activity in cultured fibroblasts from patients with maple syrup urine disease, Lesch‐Nyhan syndrome and healthy controls |
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| Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal‐ spondyloperipheral dysplasia |
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| Trisomy 20q due to maternal t(16;20) translocation First case |
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| Glucose‐6‐phosphate dehydrogenase deficiency in Sicily. Incidence, biochemical characteristics and clinical implications |
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| Melkersson‐ Rosenthal's syndrome in four generations |
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| C‐band polymorphism in human chromosome no. 6 |
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| Orientation of major histocompatibility (MHC) genes relative to the centromere of human chromosome 6 |
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✓ |
✓ |
Dutch |
| Familial holoprosencephaly |
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| Reply to Escobar and Cantu |
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| “Adult” form of polycystic kidney disease in neonates |
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| Ichthyosis vulgaris |
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| XY gonadal dysgenesis associated with hGH and gonadotrophin deficiencies |
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| Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients |
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✓ |
✓ |
Finnish; Finland; "young, isolated populations in Finland" |
| Two XX male brothers |
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| Pi phenotypes of alpha<sub>1</sub>‐antitrypsin in Southern England: Identification of M subtypes and implications for genetic studies |
|
✓ |
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| Nonketotic hyperglycinemia A genetic study of 13 Finnish families |
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✓ |
✓ |
Finnish; Finnish population; northern Finland; grandparents' birth-places |
| Description of chromosome banding patterns by band transition sequences |
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| Visual classification of banded human chromosomes |
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| Trisomy 20 mosaicism in amniotic fluid cell culture |
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| A study of possible heterogeneity in Duchenne muscular dystrophy |
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| The technical variables associated with the frequencies of QFQ, RFA and CBG heteromorphisms of human chromosomes |
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| Partial trisomy for the distal long arm of chromosome 5 (region q34→qter). A new clinically recognizable syndrome |
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| A New Osteosarcoma/Malformation Syndrome |
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| Announcement |
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| Prenatal diagnosis of the Meckel syndrome |
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| Human gene mapping by postreduction and recombination frequencies under complete interference |
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| Chromosome breaks and sister chromatid exchanges in albinos in Nigeria |
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✓ |
✓ |
Ibo extraction; pigmented controls |
| No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45 XO Turner syndrome |
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| α<sub>1</sub>‐Antitrypsin deficiency in twins and parents‐of‐twins |
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| Polymorphism of apolipoprotein E |
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| Polymorphism of apolipoprotein E |
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| Dermatoglyphics in parents of children with trisomy 21 |
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| Familial middle lobe bronchiectasis |
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| A true hermaphrodite dispermic chimera with 46, XX and 46, XY karyotypes |
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| Isolated congenital ectopia lentis with autosomal dominant inheritance |
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| Chromosomes in retinoblastoma patients |
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| International Svirmosium |
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| Heterozygote advantage in cystic fibrosis: mosquito tests |
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| SCE in B and T lymphocytes. Possible implications for Bloom's syndrome |
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| Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome |
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| Translocation 46XY, t (17;18) (q25;q21) in a mentally retarded boy with progressive eye abnormalities |
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| Features of trisomy 18 and 18p‐syndromes in an infant with 46, XY, i(18q) |
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| Neuraminidase deficiency in the original patient with the Goldberg Syndrome |
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| Roberts' syndrome.I. Cytological evidence for a disturbance in chromatid pairing |
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| Chromosome 8 abnormalities as components of neoplastic and hematologic disorders |
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| Autosomal recessive spastic paraplegia: evidence for demyelination |
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| Counseling for dominant traits: a correction for the ascertainment bias due to referral for analysis |
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| Partial trisomy 13 plus partial trisomy 4q due to unusual segregation of translocation chromosomes |
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| Announcements |
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| Variability between and within laboratories in the analysis of structural chromosomal abnormalities |
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| Genetic structure of the Greek gypsies |
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✓ |
✓ |
'Greek gypsies', 'Greek population', 'gypsy groups', 'Punjab region of India' |
| Risk of malignancy and chromosomal polymorphism: a possible mechanism of association |
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| Announcements |
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| The human X‐chromosome and the levels of serum immunoglobulin M |
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| X‐linked dominant ichthyosis |
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| Turner's syndrome with a duplication‐deficiency X chromosome derived from a maternal pericentric inversion X chromosome |
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| Prenatal diagnosis of trisomy 20 mosaicism |
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| Acrocephalopolysyndactyly type IV: A new genetic syndrome in 3 sibs* |
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| Epidermolysis bullosa simplex and mottled pigmentation: A new dominant syndrome |
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| Regional mapping of the HLA on the short arm of chromosome 6 |
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| Craniometaphyseal dysplasia ‐variability of expression within a large family |
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| Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome) |
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| Amniotic fluid cell culture |
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| Familial occurrence of syngnathia congenita syndrome |
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| A supernumerary “G” like chromosome originating from a maternal 13;15 translocation in a nondysmorphic, retarded girl |
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| Announcement |
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| Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair |
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| Letter to the Editors |
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