| Familial nevus flammeus of the forehead and Unna's nevus |
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| Early prenatal diagnosis of cystic fibrosis by ultrasound |
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| Biochemical studies in Niemann‐Pick disease. III: In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms |
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| Late onset G<sub>M2</sub> gangliosidosis: an α‐locus genetic compound with near normal hexosaminidase activity |
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✓ |
✓ |
non-Jewish |
| Trisomy 10 mosaicism in a newborn boy; delineation of the syndrome |
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✓ |
✓ |
mongoloid eye slant |
| Letter to the Editors |
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| Announcement |
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| Dermatoglyphic findings in patients with fragile X‐chromosome |
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| Oral and dental development in X chromosome aneuploidy |
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| Decreased scattering coefficient of blue sclerae |
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| Supraumbilical midabdominal raphe and facial cavernous hemangiomas |
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✓ |
✓ |
Japanese; from Germany |
| The incidence of Down syndrome in northern Finland with special reference to maternal age |
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| Inherited tandem duplication dup(X) (q131‐q212) in a male proband |
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| Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the time |
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| ABSTRACTS |
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| X‐linked Ehlers‐Danlos syndrome type V; the next generation |
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| Unbalanced karyotype with normal phenotype in a family with translocation (8;13) (p21;q22) |
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| Autosomal dominant transmission of ankylosed teeth, abnormalities of the jaws, and clinodactyly |
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✓ |
✓ |
mixed racial ancestry |
| Detection of the fragile X chromosome and other fragile sites |
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| Complex glycerol kinase deficiency syndrome explained as X‐chromosomal deletion |
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| Marker chromosome in cat eye syndrome |
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| Heterogeneity of Kallmann's syndrome |
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| Expression of X‐linked hypohidrotic ectodermal dysplasia in six males and in their mothers |
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| Heritable fragility at 11q13 and 12q13 |
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| A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolf‐Hirschhorn syndrome |
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| Prenatal testing and twinning |
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| I‐cell disease: clinical studies of 21 Japanese cases |
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| Steroid sulphatase deficiency disease |
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| Sotos syndrome — autosomal dominant inheritance substantiated |
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| Cortical blindness, growth and psychomotor retardation and postaxial Polydactyly: A probably distinct autosomal recessive syndrome |
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| Dandy‐Walker malformation: etiologic heterogeneity and empiric recurrence risks |
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| Association of parental consanguinity with decreased birth weight and increased rate of early death and congenital malformations |
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| Niemann‐Pick disease type B: first‐trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development |
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| Risk calculations in genetic counselling ‐ a simple approximation to probabilities in the normal distribution |
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| Mosaic tetrasomy 12p |
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| Ectodermal manifestations in Menkes disease |
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| Morphology of cystic fibrosis at 17 weeks of gestation |
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| Genetic counseling and genetic heterogeneity in the thalassemias |
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| Possible teratogenic effects of artificial insemination by donor |
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| The characteristic physiognomy and tissue specific karyotype distribution in the Pallister‐Killian syndrome |
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| Monosomy 16q: a distinct syndrome Apropos of a de <i>novo</i> del(16) (q2100q2300) |
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| Letters to the Editors:Fragile sites and chromosome breakpoints in constitutional rearrangements |
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| Letters to the Editors:Detection of fragile sites on human chromosomes |
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| Co‐cultivation studies in the expression of fragile(X) (q27) in lymphocytes |
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| Autoimmune polyendocrinopathy – candidosis – ectodermal dystrophy (APECED): autosomal recessive inheritance |
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✓ |
✓ |
central and eastern Finland; "Finnish heritage of disease" |
| Maximal low density lipoprotein receptor activity and the effect of lipid lowering diet on total serum cholesterol |
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| Deficiency of fumarylacetoacetase without hereditary tyrosinemia |
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| Genetic Research with Nonhuman Primates: Serving the Needs of Mankind |
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| Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden |
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| C4 allotypes and HLA‐DR antigens in the family of a patient with C4 deficiency |
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| Carrier detection in Duchenne muscular dystrophy using computed tomography |
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| Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters |
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| Birth intervals in oral cleft families |
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| Balanced reciprocal translocations: risk factors for aneuploid segregant viability |
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| 5‐azacytidine treatments in the characterization of a t(1;21)(q12;q22) carrier karyotype |
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| A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy‐Walker cyst |
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| Tetraploidy in two sisters with the polycystic ovary syndrome |
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| Diploid‐tetraploid mosaicism in a malformed boy |
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| Cystic fibrosis; hint of linkage with F13B |
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| The Human Gene Map 1 December 1984 |
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| Prenatal diagnosis of trisomy 20 mosaicism indicating esophageal and rectal origin |
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| Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosome |
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| Paternal mosaic 45,X/46,XYq + and recurrent spontaneous abortions without monosomy X |
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| Erratum |
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| PROGRAMME |
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| Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants |
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✓ |
✓ |
American Black; Ashkenazi Jewish; Norrbottnian |
| Increased frequency of the apolipoprotein E‐4 isoform in male subjects with multifactorial hypercholesterolemia |
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| Consanguinity among the Kuwaiti population |
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| Antenatal diagnosis of infantile Refsum's disease |
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| Partial trisomy 12q: clinical and cytogenetic observations |
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| A new banding pattern of human chromosomes by in situ nick translation using ECO RI and biotin‐dUTP |
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| Imaging techniques in muscular dystrophies |
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| The Eighth Annual New York March of Dimes Symposium on Genetics for the Practicing Physician |
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| 13th Annual Meeting of the European Working Group for Cystic Fibrosis |
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| Direct and maternal aspects of the risk of cataract with partial disorders of galactose metabolism |
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| The size of prometaphase chromosome segments Tables using percentages of haploid autosome length (750 band stage |
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| A test of a climate room for preparation of chromosome slides |
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| ERRATUM |
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| A study of DNA polymorphisms around the human apolipoprotein Al gene in hyperlipidaemic and normal individuals |
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| A psychometric study of children at‐risk for Huntington disease |
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| Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis |
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| Detection and interpretation of two different cell lines in triploid abortions |
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| Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1→p22) |
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| Mental retardation with pterygia, shortness and distinct facial appearance A new MCA/MR syndrome |
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| An unusual case of X‐15 translocation: evidence for the presence of an ‘activator’ region on Xpter of Man |
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| Genetic regulation of the kinetics of glucose‐induced insulin release in man Studies in families with diabetic and non‐diabetic probands |
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| Metacarpophalangeal pattern profile analysis in Prader‐Willi syndrome A follow‐up report on 38 cases |
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| Autosomal dominant cataract and microcornea associated with myopia in a Sicilian family |
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✓ |
✓ |
Sicilian family |
| Yq deletion (q11.21) in a H‐Y<sup>+</sup> azoospermic male |
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| Letters to the Editors:Fra(X)syndrome and autism |
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| Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7* |
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| Congenital contractural arachnodactyly Report of four additional families and review of literature |
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| Detection at amniocentesis of a maternally inherited X; Y translocation |
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| Multiple dysmorphic features and pancytopenia: a new syndrome? |
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| 1985 National Society of Genetic Counselors Education Conference: Religious, Cultural and Ethnic Influences on the Counseling Process |
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| First International Meeting on Human Population Genetics, INSERM |
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| A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis |
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| Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46, XY, ‐9, + DER(9)T(6:9)(p211:p24) |
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| ISBT Working party on terminology for red cell surface antigens |
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| Decrease of fragile X frequency in stored blood samples; individual variability |
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| Chromosomal abnormalities associated with congenital contractures (arthrogryposis) |
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| Carrier detection in Becker muscular dystrophy using creatine kinase estimation and DNA analysis |
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| The relative risk for standard 21 trisomy has not increased in young mothers in Belgium, 1960–1978 |
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| HLA‐DR antigens and phenotypes in Dutch coeliac children and their families |
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| Sister chromatid exchange with and without in vitro mutagen induction in cultured skin fibroblasts from patients with adenomatosis of the colon and rectum |
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| Survival in trisomy 18: Life tables for use in genetic counselling and clinical paediatrics |
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| Diabetes mellitus in Huntington disease |
|
✓ |
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| A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges |
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| Non‐dermatological complications and genetic aspects of the Rothmund‐Thomson syndrome |
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| Frequency of the fragile X syndrome in infantile autism |
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| Studies on human low serum IgD phenotype and Gm markers |
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✓ |
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✓ |
✓ |
Sardinian |
| The dysequilibrium syndrome: a study of the etiology and pathogenesis |
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| Cloacal exstrophy and related abdominal wall defects in Manitoba: Incidence and demographic factors |
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| 4‐methylumbelliferyl α‐N‐acetylglucosaminidase activity for diagnosis of Sanfilippo B disease |
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| Computed tomographic findings in manifesting carriers of Duchenne muscular dystrophy |
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| Announcements |
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| Chromosome analysis in 100 cases of first trimester trophoblast sampling |
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| Manifestation of the lines of Blaschko in women heterozygous for X‐linked hypohidrotic ectodermal dysplasia |
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| Age of onset in siblings of persons with juvenile Huntinqton disease |
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| EEC syndrome without ectrodactyly? Report of 8 cases |
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| Agenesis of the corpus callosum and macrocephaly in siblings |
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| X inactivation patterns in two syndromes with probable X‐linked dominant, male lethal inheritance |
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| Trismus‐pseudocamptodactyly syndrome in a Japanese family |
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✓ |
✓ |
Dutch origin; Japanese family |
| A Weaver‐like syndrome with endocrinological abnormalities in a boy and his mother |
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| Linkage relationships of paraoxonase (PON) with other markers: indication of PON‐cystic fibrosis synteny |
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| Osteoporosis‐pseudoglioma syndrome? |
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| Hirschsprung disease: a genetic study |
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| The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia Further evidence for autosomal recessive inheritance |
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| Guadalajara camptodactyly syndrome type II |
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| The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome |
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✓ |
✓ |
South African family of Indian stock |
| Paracentric inversions in man |
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| Familial recurrence of terminal transverse defects of the arm |
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| Werdnig‐Hoffmann disease on Reunion Island: a founder effect? |
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| Tandem duplication of 10(q21‐q22) in a mentally deficient man |
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| Maternal autosomal translocation t(5;18)(q12;q11) and Edward's syndrome in the fetus |
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| Autosomal recessive congenital cerebellar hypoplasia |
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| On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the Black population of South Africa |
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✓ |
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| Partial deletion of the short arm of chromosome 3 (3p25 → 3pter) Further delineation of the clinical phenotype |
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| Velo‐cardio‐facial syndrome presenting as holoprosencephaly |
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| Genetic counseling for autosomal dominant diseases with a negative family history |
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| Karsch‐Neugebauer syndrome: split foot/split hand and congenital nystagmus |
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| De novo t(4;5) (q3100; q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment |
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| Disease risk estimates from marker association data: Application to individuals at risk for hemochromatosis |
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| Semiautomated chromosome analysis: A clinical test |
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| Effect of balanced X/autosome translocations on sexual and physical development |
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| A distinct variant of intermediate maple syrup urine disease |
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| A complex rearrangement, including a deleted 8q, in a case of Langer‐Giedion syndrome |
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| Ethical aspects of medical genetics |
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| Low density lipoprotein receptor activity in cultured skin fibroblasts from octa‐ and nonagenarians |
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| Effect of folic acid treatment in the fragile X syndrome |
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| Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy |
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| Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome |
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| Gustatory lacrimation in association with the branchio‐oto‐renal syndrome |
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| A folate sensitive heritable fragile site at 19p13 |
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| Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43) |
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| Fragile sites and chromosome breakpoints in constitutional rearrangements |
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| Frequency of fragile X chromosome in normal females |
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| The cerebro‐costo‐mandibular syndrome: third report of familial occurrence |
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| Partial trisomy 5q and partial monosomy 5q within the same family |
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| Duchenne‐like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance |
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| Cornelia de Lange syndrome in a mother and daughter |
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| An unusual variant chromosome 9 with an extra C‐negative, G‐dark segment in the short arm |
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| About diploid‐tetraploid mosaicism |
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| 46, X, i(Xq) karyotype in a patient with hypoplastic left heart |
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| Use of HLA marker associations and HLA haplotype linkage to estimate disease risks in families with gluten‐sensitive enteropathy |
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| Maternal cell contamination in chorionic villi cultures ‐ Exclusion by chromosomal fluorescence polymorphisms |
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| Variable clinical presentation of cutis laxa |
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| Lethal and non‐lethal diastrophic dysplasia A study of 14 Swedish cases |
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| Umbilical dysmorphology. The importance of contemplating the Belly Button |
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| Centromere heteromorphism in chromosome 19 |
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| Announcement |
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| Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter→q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and “Cat eye” phenotypical f |
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| The Aase‐Smith syndrome |
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| Åland eye disease: no albino misrouting |
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| Ring chromosome 21 in a phenotypically normal but infertile man |
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| The humble fibroblast ‐ a curiosity or a cell model for human genetic research |
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| Information about diploid‐tetraploid mosaicism in a six‐year‐old male |
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| Prenatal diagnosis of cystic fibrosis by trehalase enzyme assay in amniotic fluid |
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| Genetic linkage analysis of epidermolysis bullosa dystrophia, Cockayne‐Touraine type |
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| Segregation analysis of a translocation (16;21)(p11;q22) in a large pedigree |
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| The facio‐audio‐symphalangism syndrome: report of a case and review of the literature |
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| The Groll‐Hirschowitz syndrome |
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| The FG syndrome: 7 new cases |
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| Familial syndrome with some features of the Langer‐Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23<q21.1) |
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| Dominantly inherited syndrome of microcephaly and congenital lymphedema |
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✓ |
✓ |
Chinese |
| Fetal mortality in oral cleft families (X): a response |
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| European Society of Human Genetics Abstracts from XVIII Symposium |
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| DNA polymorphism of the RC8 probe on the X‐chromosome: Identification of a new DNA variant with the Taql enzyme |
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Norwegian population |
| Oculo‐palato‐cerebral dwarfism: a new syndrome |
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| Familial clefting syndrome with ectropion and dental anomaly — without limb anomalies |
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| Genetic Polymorphisms and Fertility in Mammals Rome, 24–25 May, 1985 |
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