| Analysis of a follow‐up study of genetic counseling |
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| Familial hyper‐alpha‐lipoproteinemia in 26 kindreds |
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✓ |
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| Congenital heart disease with del(15q) mosaicism |
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| 48, XYY,+13 Karyotype in a liveborn infant |
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| Sialidosis: delineation of subtypes by neuraminidase assay |
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| Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus |
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✓ |
✓ |
U.S. blacks; African black cases |
| Albinism, skin carcinoma and chromosome aberrations |
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| European Society of Human Genetics Abstracts from Symposium on “Genetic Aspects of Fertility and Fetal Wastage” |
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| Dominant sex‐linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata |
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| Spontaneous and X‐ray induced chromosomal aberrations in selected connective tissue diseases |
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| Penetrance estimates and recurrence risks for fibromuscular dysplasia |
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| Dermatoglyphic patterns in the Sjögren‐Larsson syndrome |
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✓ |
✓ |
Swedish |
| Familial X‐linked mental retardation with a marker X chromosome and its relationship to macro‐orchidism |
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| Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication‐deletion of chromosome 9 and gene dosage effect for adenylate kinase‐1 |
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| The spectrum of frontonasal dysplasia in an inbred pedigree |
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| Bloom's syndrome in a Japanese girl |
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✓ |
✓ |
Japanese |
| A case of Mulibrey nanism with associated Wilms' tumor |
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| Upper limb anomalies and renal disease |
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| Automatic chromosome analysis |
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| The offspring of schizophrenic parents in a North Swedish isolate |
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| Two unrelated children with distal long arm deletion of chromosome 7: clinical features, cytogenetic and gene marker studies |
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| The agglutination of <i>Proteus vulgaris</i> by cystic fibrosis serum: a re‐examination |
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| Congenital diaphragmatic hernia |
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| Incidence of major chromosomal abnormalities in a referred population for suspected chromosomal aberrations: a report of 357 cases |
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| Nomenclature of GM2–gangliosidoses |
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| Adult Gmi gangliosidosis: Clinical and biochemical studies on two patients and comparison to other patients called variant or adult Gm1 gangliosidosis |
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| Cytogenetic evidence for the localisation of the gene for congenital adrenal hyperplasia |
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| Genetic association in vitiligo: ABO, MNSs, Rhesus, KeII and Duffy blood groups |
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| A new white forelock (poliosis) syndrome with multiple congenital malformations in two sibs |
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✓ |
✓ |
|
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✓ |
✓ |
Jewish Ashkenazi |
| Genetic susceptibility to multiple sclerosis: a linkage analysis with age‐of‐onset corrections |
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| Genetic counselling for adult polycystic kidney disease. Ultrasound a useful tool in pre‐symptomatic diagnosis? |
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| Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus |
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| Chlorpropamide‐alcohol flushing is not useful for individual genetic counseling of diabetic patients |
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| Prior abortions and neural tube defects |
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| Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children |
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✓ |
✓ |
Sweden; Swedish families |
| Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses |
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| Abnormalities of sexual differentiation in campomelic dwarfs |
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| Announcements |
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| Trisomy 18q: 46, XX,13q+,t(13;18)(q32;q11) in a newborn associated with multiple congenital anomalies due to paternal reciprocal translocation, 46, XY,‐13,+der(13)/t(13;18)(q32;q11) |
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| A balanced translocation t(4;9) (q35;q12) with a breakpoint within the heterochromatic region of chromosome 9 in a woman with recurrent abortion |
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| A new syndrome of triphalangeal thumbs and brachy‐ectrodactyly |
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| Assay of the β‐glucosidase activity with natural labelled and artificial substrates in cultivated skin fibroblasts from homozygotes and heterozygotes with the Norrbottnian type of Gaucher disease |
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| Announcement |
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| Hereditary amyotrophic lateral sclerosis transmitted for five generations |
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| The Wolf‐Hirschhorn syndrome |
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| Immunoglobulin concentration and Gm allotypes in a family with thirty‐three cases of myotonic dystrophy |
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| Pericentric X chromosome ascertained during antenatal diagnosis |
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| Waardenburg's Syndrome and Hirschsprung's Disease in the same Patient |
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| Bloom's syndrome, missing Y, hypogonadism and cancer |
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| The use of probability trees in genetic counselling |
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| Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia |
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| Ring chromosome 15 in a male adult with radial defects. Evaluation of the phenotype |
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| Complex chromosome rearrangements:Report of a new case and literature review |
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| Familial occurrence of chromosome 7/12 translocation |
|
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|
|
| Atrioventricular conduction time ‐a heritable trait? |
|
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|
✓ |
✓ |
Norwegians |
| Atrioventricular conduction time ‐ a heritable trait? |
|
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|
|
| A possible reason for clustering of trisomy 18 in humans |
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|
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| Two patients with an unusual form of type II fucosidosis |
|
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| Partial trisomy 21 |
|
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|
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| Association of severe rheumatoid arthritis with heterozygosity for α‐antitrypsin deficiency |
|
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|
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| Announcement |
|
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|
|
| Autosomal recessive inheritance of atrichia congenita |
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|
|
| Congenital afibrinogenemia in 10 offspring of uncle‐niece marriages |
|
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|
|
| Letter to the Editors |
|
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|
|
| Erratum |
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|
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| Genetic heterogeneity of congenital glaucoma |
|
|
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|
|
✓ |
✓ |
Gypsies; non-Gypsy population |
| Silver staining and the 17ps chromosome |
|
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|
|
| Prenatal detection of a probable heterozygote for ADA deficiency and severe combined immunodeficiency disease using a microradioassay |
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|
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| Mental retardation in association with a balanced X‐autosome translocation and random inactivation of the X chromosomes |
|
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|
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| EEC and odontotrichomelic syndromes |
|
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|
|
| Chromosomal abnormality in Prader‐Willi syndrome |
|
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|
|
| Detection of Lesch‐Nyhan Syndrome Carriers: Analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography |
|
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|
|
| Hereditary ataxia in a large Danish pedigree |
|
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|
|
✓ |
✓ |
Danish |
| Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter |
|
|
|
|
|
|
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|
|
| A new case of rearrangement of chromosome 15 associated with Prader Willi syndrome |
|
|
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|
|
|
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|
|
| Guadalajara camptodactyly syndrome |
|
|
|
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|
|
| Familial Williams Syndrome |
|
|
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|
|
|
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|
|
| Pitfalls in the prenatal diagnosis of propionic acidemia |
|
|
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|
|
|
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|
|
| The use of sequential silver and quinacrine staining to determine the parental origin and breakpoints of a ring‐22 human chromosome |
|
|
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|
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|
|
| Peculiar face, pectus carinatum and joint laxity in brother and sister |
|
|
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|
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|
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|
|
| X‐linked Dyggve‐Melchior‐Clausen syndrome |
|
|
|
|
|
|
|
|
|
| Distal osteosclerosis |
|
|
|
|
|
|
✓ |
✓ |
mixed ancestry |
| Interstitial deletion of the long arm of chromosome 1, del(1)(q21‐q25) in a profoundly retarded 8‐year‐old girl with multiple anomalies |
|
|
|
|
|
|
|
|
|
| The secretor status of the foetus |
|
|
|
|
|
|
|
|
|
| Hereditary colon cancer syndromes: an <i>in vitro</i> study |
|
|
|
|
|
|
|
|
|
| The camptomelic syndrome in two female siblings |
|
|
|
|
|
|
|
|
|
| Announcement |
|
|
|
|
|
|
|
|
|
| Fetal gonadal histology in XXXXY, XYY and XXX syndromes |
|
|
|
|
|
|
|
|
|
| Trisomy 18q‐. Trisomy mapping of chromosome 18 revisited |
|
|
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|
|
|
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|
|
| Binary developmental commitments in normal and abnormal human morphogenesis |
|
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|
|
|
|
|
|
|
| Three levels of G‐band differentiation |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of the prune belly syndrome |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11←q13) segment of chromosome 2 |
|
|
|
|
|
|
|
|
|
| Hereditary urogenital adysplasia |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of a de novo reciprocal translocation 46,XX,t(1;18) (p22;q23) |
|
|
|
|
|
|
|
|
|
| Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
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|
|
| Familial pterygium syndrome |
|
|
|
|
|
|
|
|
|
| Intrafamilial associations of cholesterol and triglyceride among related and unrelated household members |
|
|
|
|
|
|
✓ |
✓ |
sex‐race group |
| Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation |
|
|
|
|
|
|
|
|
|
| A and B Postaxial polydactyly in two members of the same family |
|
|
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|
|
|
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|
|
| Partial trisomy 1 (q42→ter) |
|
|
|
|
|
|
|
|
|
| Somatic cell genetic studies of the cystic fibrosis mucociliary inhibitor |
|
|
|
|
|
|
|
|
|
| Lymph vessel defects in patients with ovarian dysgenesis |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Gc Serum groups and schizophrenia |
|
|
|
|
|
|
|
|
|
| Baller‐Gerold syndrome Craniosynostosis‐radial aplasia syndrome |
|
|
|
|
|
|
✓ |
✓ |
black |
| Familial angiolipomatosis |
|
|
|
|
|
|
|
|
|
| Hemorrhagic pancreatitis in a patient with glycogen storage disease type I |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Dominant inheritance of femoral hypoplasia‐unusual facies syndrome |
|
|
|
|
|
|
|
|
|
| Albinism in Nigeria with delineation of new recessive oculocutaneous type |
|
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|
|
|
|
|
|
| Prenatal diagnosis of harlequin ichthyosis |
|
|
|
|
|
|
|
|
|
| Decreasing mosaicism in Down's syndrome |
|
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|
|
|
|
|
|
|
| Concanavalin A reactivity pattern of human amniotic fluid AFP examined by crossed affino‐immunoelectrophoresis. A definite test for neural tube defect? |
|
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|
|
|
|
|
|
| Forsius‐Eriksson syndrome: Its relation to the Nettleship‐Falls X‐linked ocular albinism |
|
|
|
|
|
|
|
|
|
| Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32→13qter |
|
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|
|
|
|
|
|
|
| The use of genetic linkage in counselling families with dystrophia myotonica |
|
|
|
|
|
|
|
|
|
| Familial occurrence of intracranial arterial occlusive disease (Moyamoya) in neurofibromatosis |
|
|
|
|
|
|
|
|
|
| Properties and significance of a small marker chromosome in amniotic fluid cells |
|
|
|
|
|
|
|
|
|
| Idiopathic intestinal pseudo‐obstruction: A familial visceral neuropathy |
|
|
|
|
|
|
|
|
|
| XX Male with breast cancer |
|
|
|
|
|
|
|
|
|
| Prader‐Willi syndrome and a bisatellited derivative of chromosome 15 |
|
|
|
|
|
|
|
|
|
| Application of the lod score method to detection of linkage between HLA and juvenile insulin‐dependent diabetes |
|
|
|
|
|
|
|
|
|
| Clinical, hematological and genetic features of sickle‐cell anemia and sickle cell‐β thalassemia in a Brazilian population |
|
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|
|
|
|
|
| The campomelic syndrome in a singleton and monozygotic twins |
|
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|
|
|
|
|
|
|
| Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter |
|
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|
|
|
|
|
|
|
| Quantitative analysis of 6985 digitized trypsin G ‐banded human metaphase chromosomes |
|
|
|
|
|
|
|
|
|
| Absent ulna in the Klippel‐Feil syndrome: an unusual associated malformation |
|
|
|
|
|
|
|
|
|
| The calculation of genetic risks in X‐linked recessive conditions using programmable calculators |
|
|
|
|
|
|
|
|
|
| A cytogenetic survey of 449 patients in a Japanese institution for the mentally retarded |
|
|
|
|
|
|
|
|
|
| Detection of HLA antigens on progeria syndrome fibroblasts |
|
|
|
|
|
|
|
|
|
| A rare case of mosaic Down syndrome 46,XY/46,XY, ‐21, +i(21q) |
|
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|
|
|
|
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|
|
| Apparently changing patterns of inheritance in Alport's hereditary nephritis: Genetic heterogeneity versus altered diagnostic criteria |
|
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|
|
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|
|
| Amniocentesis for prenatal diagnosis in twin gestation |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Cardiac involvement in the Cohen syndrome: A case report |
|
|
|
|
|
|
✓ |
✓ |
Jewish |
| Occurrence of sex chromosome mosaicism and translocation Down's syndrome in the same family |
|
|
|
|
|
|
|
|
|
| Announcement |
|
|
|
|
|
|
|
|
|
| The Wolf‐Hirschhorn syndrome |
|
|
|
|
|
|
|
|
|
| Risk factors associated with neural tube defects |
|
|
|
|
|
|
|
|
|
| Kleeblattschadel anomaly and partial trisomy for chromosome 13 (47,XY,+der(13),t(3,13)(q24; |
|
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|
|
|
|
|
| Elimination of an abnormal cell line from blood lymphocytes during post‐natal growth |
|
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|
|
|
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|
|
| HLA typing of cultured amniotic cells for the prenatal diagnosis of complement C4 deficiency |
|
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|
|
|
|
|
|
|
| Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case |
|
|
|
|
|
|
|
|
|
| A modified method for the identification of heterozygotes for Gaucher's disease using differential thermal inactivation |
|
|
|
|
|
|
|
|
|
| Amniotic fluid secretor typing: Validation for use in prenatal prediction of myotonic dystrophy |
|
|
|
|
|
|
|
|
|
| Complete and partial trisomy 8 |
|
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|
|
|
|
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|
|
| Replay from R M Flneman, Utah |
|
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|
|
|
|
|
|
|
| Frequency of XYY males in Wisconsin State correctional institutions |
|
|
|
|
|
|
✓ |
✓ |
black males |
| Bloom's syndrome in a Japanese boy with lymphoma |
|
|
|
|
|
|
|
|
|
| Langer‐Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 <b>46,</b> XY, del 8 (q 13–22) |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of X‐linked diseases |
|
|
|
|
|
|
|
|
|
| Familial occurrence of trophoblastic disease ‐ report of recurrent molar pregnancies in sisters in three families |
|
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|
|
|
|
|
|
|
| Autosomal dominant and X‐linked ichthyosis in the same family. Biochemical analysis of steroid sulfatase activity |
|
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|
|
|
|
|
|
|
| Duplication‐deletion syndrome in a family with pericentric inversion of chromosome 6 |
|
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|
|
|
|
|
|
|
| Omphalocele in half‐siblings |
|
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|
|
|
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|
|
| Sotos syndrome in two brothers |
|
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|