| CHROMOSOME MOSAICISM AND PSEUDOMOSAICISM IN PRENATAL CYTOGENETIC DIAGNOSIS |
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| BIRTH DEFECTS INSTITUTE SYMPOSIA |
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| ENZYMOLOGICAL DIAGNOSIS OF LYSOSOMAL STORAGE DISORDERS |
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| COUNSELING IN CASES OF IDIOPATHIC SYNDROMES |
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| PRENATAL SCREENING FOR CYSTIC FIBROSIS |
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| PRENATAL DIAGNOSIS OF HEMOGLOBINOPATHIES BY RESTRICTION ANALYSIS: METHODOLOGY AND EXPERIENCE |
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| ANTENATAL DETECTION OF CYSTIC FIBROSIS |
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| GALTON REVISITED |
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| Front Matter |
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| ACKNOWLEDGMENTS |
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| CURRENT CONCEPTS OF TREATMENT IN PHENYLKETONURIA |
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| GENETIC HETEROGENEITY AND COMPLEMENTATION ANALYSIS: GENERAL PRINCIPLES AND STUDIES IN PROPIONIC ACIDEMIA |
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| GENETIC COUNSELING FOR NORMAL PARENTS WITH TWO OR MORE RETARDED CHILDREN: A DIAGNOSTIC DILEMMA |
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| THE LARGE-FOR-GESTATIONAL-AGE (LGA) INFANT IN DYSMORPHIC PERSPECTIVE |
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| GENETIC COUNSELING IN PSYCHIATRIC DISORDERS |
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| SCREENING AND PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS: INTRODUCTION AND REVIEW |
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| CYSTIC FIBROSIS: IMMUNOASSAYS FOR CARRIER DETECTION AND METABOLIC CORRECTION IN VITRO |
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| DE NOVO STRUCTURAL REARRANGEMENTS: IMPLICATIONS FOR PRENATAL DIAGNOSIS |
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| INTERPRETATION OF RECENT DATA PERTINENT TO GENETIC COUNSELING FOR DOWN SYNDROME: MATERNAL-AGE-SPECIFIC-RATES, TEMPORAL TRENDS, ADJUSTMENTS FOR PATERNAL AGE, RECURRENCE RISKS, RISKS AFTER OTHER CYTOGEN |
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| Copyright |
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| PREFACE |
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| NUTRITIONAL SUPPLEMENTATION AND PREVENTION OF NEURAL TUBE DEFECTS |
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| WHO GETS AMNIOCENTESIS? |
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| INDEX |
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| CONTRIBUTORS AND PARTICIPANTS |
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| Glycogen storage disease: long‐term follow‐up of nocturnal intragastric feeding |
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| Treatment of phenylketonuria during pregnancy |
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| Structural anomalies of the X chromosome: personal observation and review of non‐mosaic cases |
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| Announcements |
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| Mucolipidosis II: unusual presentation with a congenital angulated fracture |
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| Mosaic tetrasomy 21 in a liveborn male infant |
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| Heterogeneity of insulin‐dependent diabetes–new evidence |
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| Fetal dermatoglyphics |
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| Ichthyosis in the Sjögren‐Larsson syndrome |
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| Metachromatic leukodystrophy caused by a partial cerebroside sulfatase defect |
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| Pure XX gonadal dysgenesis in identical twins |
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| A familial pericentric inversion of chromosome 8 analysed with a high resolution chromosome banding technique |
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| A boy with proximal trisomy 15 and a male foetus with distal trisomy 15 due to a familial 13p;15q translocation |
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| Catechol‐O‐methyltransferase activity in erythrocytes in Down's syndrome: family studies |
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| Adrenoleukodystrophy: diagnosis and carrier detection by determination of long‐chain fatty acids in cultured fibroblasts |
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| Elucidation of an unbalanced chromosome translocation by gene dosage studies |
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| A case of retinoblastoma, associated with histiocytosis‐X and mosaicism of a deleted D‐group chromosome (13q14→q31) |
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| A syndrome of short stature, joint laxity and developmental delay |
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| Childbirth in a woman with chronic Niemann‐Pick (type B) disease |
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| A total population study of diagnosed chromosome abnormalities in Queens land, Australia |
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| Human hair follicles may be used for population screening of heterozygotes of glucose‐6‐phosphate dehydrogenase deficiency |
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| Body height in Turner's syndrome |
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| A note on association of Bf and glomerulonephritis |
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| Hemophilia A and B — two years ex‐perience of genetic counselling and prenatal diagnosis |
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| Fertility in patients with X chromosome deletions |
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| Basal cell carcinoma in a patient with intestinal polyposis |
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| Digital clubbing, hyperhidrosis, acro‐osteolysis and osteoporosis. A case resembling pachydermoperiostosis |
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| A fourth case of ring chromosome 7 |
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| Lenz microphthalmia — a case report |
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| A familial paracentric inversion in the short arm of chromosome 3: a case report |
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| Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases |
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| Platelet abnormalities in Down's syndrome |
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| Low chiasma frequency as an aetiological factor in male infertility |
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| Holt‐Oram syndrome: penetrance of the gene and lack of maternal effect |
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| Brachydactyly with major involvement of proximal phalanges |
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| Recurrence of the VATER association within a sibship |
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| Ring chromosome 15: Report of a case in an infertile man |
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| The effect of variant chromosomes on reproductive fitness in man |
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| Hereditary pyrophosphate arthropathy (familial articular chondrocalcinosis) in Sweden |
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European families; Swedish (Swedish families) |
| SCE in Bloom syndrome B and T lymphocytes |
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| Familial reciprocal translocation, t(2;10)(p24;q26), resulting in duplication 2p and deletion 10q |
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| Degradation of keratan sulfate by ß‐N‐acetylhexosaminidases in GM<sub>2</sub>‐gangliosidosis |
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| Testicular feminization syndrome (TFS) associated with paragonadal cysts |
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| Distinctive hair changes (pili torti) in Rapp‐Hodgkin ectodermal dysplasia syndrome |
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| The dermatoglyphic pattern of the Kabuki make‐up syndrome |
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| The Coffin‐Lowry syndrome. Experience from four centres |
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| Quantitative immunoassays for diagnosis and carrier detection in cystic fibrosis |
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| Catalytically defective ganglioside neuraminidase in mucolipidosis IV |
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| Increased amniotic alphafetoprotein due to a holoacardium amorphous twin |
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| X‐chromosomes attached by their long arm: case report and replication kinetics of the rearranged X‐chromosome |
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| Hyperexplexia: an inherited disorder of the startle response |
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| Symposium |
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| A <i>de novo</i> tandem duplication 15(q21→qter) mosaic |
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| Association of Meckel syndrome with M‐anisosplenia in one patient |
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| The distribution of clinical findings in Bechterew's syndrome (ankylosing spondylitis) suggests distinct genetic subgroups |
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| Copper/zinc superoxide dismutase (SOD‐1) activity in regular trisomy 21, trisomy 21 by translocation and mosaic trisomy 21 |
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| Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies |
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| Evidence for an autosomal recessive gene regulating the persistence of the insulin response to glucose in man |
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| Fronto‐metaphyseaI dysplasia. Further delineation of the clinical syndrome |
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| Interstitial deletion of chromosome 21 |
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| Interstitial <i>de novo</i> deletion of the long arm of chromosome 5: Mapping of 5q bands associated with particular malformations |
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| Chromosomal studies in healthy blood donors with IgA deficiency |
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| Interstitial deletion of chromosome 7: A case report and review of the literature |
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| Frontonasal dysplasia in the Klippel‐Feil syndrome: A new associated malformation |
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| Mannosidosis in two brothers: prolonged survival in the severe phenotype |
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| Moebius syndrome in a child and extremity defect in her father |
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| Homozygous deficiency of C4 in a child with a lupus erythematosus syndrome |
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| Long‐term follow‐up of children born after amniocentesis |
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| Note added in proof |
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| The atrioventricular conduction time ‐ a heritable trait?: III Twin studies |
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| International Registry of Abnormal Karyotypes. A Repository of Chromosomal Variants and Anomalies in Man: current status |
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| Preliminary Announcement |
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| The inheritance of sinking‐pre‐beta lipo‐protein and its relation to the Lp(a) antigen* |
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| Primary gonadal hypoplasia and dysmorphic features in ring chromosome 15 syndrome |
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| Prenatal diagnosis of Duchenne muscular dystrophy by radio‐immunoassay of myoglobin in amniotic fluid |
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| Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma |
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| Mucopolysaccharidosis type VII (β‐glucuronidase deficiency): a report of a new case and a survey of those in the literature |
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| Quantitative identification of banded human chromosomes |
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| Prenatal diagnosis of Cockayne syndrome using assay of colony‐forming ability in ultraviolet light irradiated cells |
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| Ornithine transcarbamylase deficiency: long‐term survival |
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| Group‐specific component (Gc) subtypes and schizophrenia |
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| Genetic marker studies on a family with a 14/15 translocation |
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| Genetic heterogeneity of diabetes and HLA |
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✓ |
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| Clinical and cytogenetic aspects of X‐chromosome deletions |
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| Human hair follicles, a convenient tissue for genetic studies on carcinogen metabolism |
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| Pseudodeficiency of α‐galactosidase A |
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| Present nosology of the Cenani‐Lenz type of syndactyly |
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| Letter to the Editors |
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| Three distinct types of X‐linked arthrogryposis seen in 6 families |
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| Twins discordant for Down's syndrome |
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| Heterogeneity and pleiotropism in the Moebius syndrome Sirs |
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| C‐heteromorphism in the human X‐chromosome Sirs |
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| Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia |
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| HLA antigens, psoriasis and acute anterior uveitis in Bechterew's syndrome (ankylosing spondylitis) |
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| Cytogenetic screening of a new‐born population |
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| Autosomal dominant polycystic liver disease: a second family |
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| Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel‐Manzke syndrome. A case report and review of the literature |
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| Ivemark syndrome in siblings |
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| A new craniosynostosis/mental retardation syndrome diagnosed by fetoscopy |
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| Hypotonic treatment in visual and automatic chromosome analysis |
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| Familial ectrodactyly and polydactyly: variable expressivity of one single gene ‐ embryological considerations |
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| Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: Significant differences between Type I and Type III |
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| Schizophrenia and suicide in a North Swedish isolate, 1890–1980 |
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North Swedish isolate |
| Transmission of incontinentia pigmenti from mother to son is consistent with a half chromatid back‐mutation (reversion) model |
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| Mosaic tetraploidy in a male neonate |
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| NADH dehydrogenase in cystic fibrosis |
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| Metacarpophalangeal pattern profile analysis in Prader‐WiIIi syndrome |
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| Trisomy 18 mosaicism: Clues to the diagnosis |
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| Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33 |
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| Four siblings with Robert's syndrome |
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| Prevalence and incidence of muscular dystrophy in Alberta, Canada |
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| Is there a monosomy 10qter syndrome? |
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| Addendum |
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| Hamartomatous dental cusps in hypomelanosis of Ito |
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| Partial trisomy 7p in two families resulting from different balanced translocations |
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| Terminal deletion(4)(q33) in a male infant |
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| Serum cholinesterase in the mothers of neural tube defect progeny |
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| An unusual connective tissue disease in mother and son: A “new” type of Ehlers‐Danlos syndrome? |
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| Fragile site X chromosomes and X‐linked mental retardation in severely retarded boys in a northern Swedish county. A prevalence study |
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| Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model |
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| Deletions of the short arm of chromosome 7 without craniosynostosis |
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| Is there an X‐linked form of congenital cataracts? |
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| Homocystinuria |
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| Serum reserve cholesterol binding capacity (SRCBC) in familial hypercholesterolemia |
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| Supernumerary chromosomes in six patients |
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| Association of genotype and total cholesterol in MZ twins |
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| The Fifth Annual Symposium on Genetics for Practicing Physicians September 12, 1982 |
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| Erratum |
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| Counseling female relatives of Duchenne muscular dystrophy (DMD) patients: limited impact of information on unaffected males in previous generations |
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| Impaired degradation of chondroitin sulfate in GM<sub>2</sub>‐gangliosidosis |
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| Further evidence by gene dosage for the regional assignment of erythrocyte acid phosphatase (ACPI) and malate dehydrogenase (MDHI) loci on chromosome 2p |
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| Hepatic storage of bis(monoacylglycerol) phosphate without concomitant storage of sphingomyelin in a 72‐year‐old patient with a partial deficiency of sphingomyelinase |
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| The prevalence of chromosome abnormalities among mentally retarded persons in a geographically delimited area of Denmark |
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| Prader‐Willi syndrome: Are there population differences? |
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black; black female; blacks |
| Congenital deafness and hypogonadism: a new X‐linked recessive disorder |
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| Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation |
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| The Human Gene Map 20 October 1982 |
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| A controlled retrospective follow‐up study of the impact of genetic counseling on parental reproduction following the birth of a Down syndrome child |
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| Alpha‐1‐antitrypsin protease inhibitor (Pi) phenotypes in Down's syndrome patients and their parents |
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