| Heterozygous manifestations of Langer mesomelic dysplasia |
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| A male infant with holoprosencephaly, associated with ring chromosome 21 |
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| A case report of a de novo tandem duplication (5p) (p14 → pter) |
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| Osteopetrosis |
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| A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons. A variant of Charcot‐Marie‐Tooth disease |
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| Public records and recognition of genetic disease in Scotland |
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| Ichthyosis ‐ Cheek ‐ Eyebrow (ICE) syndrome: a new autosomal dominant disorder |
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| Major genes of eye color and hair color linked to LU and SE |
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✓ |
✓ |
Danish |
| Contribution to the 18q‐ syndrome. A patient with del (18) (q22.3qter) |
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| Albinism, or the NOACH syndrome |
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| A phenotypic male with true hermaphroditism and a 46,XX/46,XY/ 47,XXY karyotype |
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| Molecular heterogeneity of translocations associated with muscular dystrophy |
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| A final word on the tricho‐rhino‐phalangeal syndromes |
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| Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects? |
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| Trichodysplasia‐xeroderma: an autosomal dominant condition |
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| Three cases of partial trisomy 9q in one generation due to maternal reciprocal t(6;8;9) translocation |
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| Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment |
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| Letter to the Editors |
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| A peculiar subphenotype in the fra(X) syndrome: extreme obesity‐short stature‐stubby hands and feet‐diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrom |
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| Postmortem Menkes diagnosis from carrier testing of female relatives |
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| Deletion of the DXS165 locus in patients with classical Choroideremia |
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| Announcements |
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| Erratum |
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| Prader‐Willi syndrome in two siblings: one with normal karyotype, one with a terminal deletion of distal Xq |
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| Homozygous variegate porphyria A severe skin disease of Infancy |
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| Progressive mental regression in siblings with Morquio disease Type B (mucopolysaccharidosis IV B) |
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| X‐linked dysmorphic syndrome with mental retardation |
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| X‐linked muscular dystrophy with early contractures and cardiomyopathy (Emery‐Dreifuss type) |
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| Family resemblance for fasting blood glucose: the Jerusalem Lipid Research Clinic |
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✓ |
✓ |
ethnicity; origin groups; Israeli population sample; population |
| Isochromosome (18q) in siblings* |
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| Effect of screening for cystic fibrosis on the influence of genetic counseling |
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| Genetic history: II. The Cohens of London |
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| PEDIGREE‐PLOT: a computer program for plotting pedigrees |
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| Carrier detection of haemophilia A using DNA markers in families with an isolated affected male |
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| Predicting intellectual functioning in 47,XXY boys from characteristics of sibs |
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| Familial transmission of a ring chromosome 21 |
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| Tandem duplication (1) (q11 → q22) in a male infant with multiple congenital malformations |
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| Robertsonian translocation and an extra microchromosome: aetiology and effect on meiotic segregation |
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| Proximal duplication of the long arm of chromosome 10 (10q11.2 → 10q22): a distinct clinical entity |
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| Parental age, and how extra isochromosomes (secondary trisomy) arise |
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| Dyslexia and chromosome 15 heteromorphism: negative lod score in a Danish material |
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| A case of first trimester chromosomal mosaicism confined to the cultivation of the gestational products |
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| Partial trisomy 3q syndrome inherited from familal t(3;9) (q26.1;p23)* |
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| Severity and recurrence risk of congenital heart defects exemplified by atrial septal defect secundum |
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| The ulnar‐mammary syndrome: an autosomal dominant pleiotropic gene |
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| Ichthyosis‐cheek‐eyebrow syndrome (ICE(<sub>skin</sub>)) |
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| Carrier Detection in DMD |
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| Trends in European Multiple Sclerosis Research Lyon, France September 3–5, 1987 |
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| Genetic heterogeneity in X‐linked agammaglobulinemia complicates carrier detection and prenatal diagnosis |
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| Mental retardation in a patient with Maroteaux‐Lamy |
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| Cardiovascular complications in the Ehlers‐Danlos syndrome with minimal external findings |
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| Cerebellar ataxia and total albinism |
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| Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway |
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✓ |
✓ |
Laps |
| How do carriers of hemophilia experience prenatal diagnosis by fetal blood s ampling? |
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| Syndrome of microcephaly, deafness/ malformed ears, mental retardation and peculiar facies in a mother and son |
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| Fragile sites are unrelated to reciprocal translocation breakpoints |
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| The Angelman (Happy Puppet) syndrome: is it autosomal recessive? |
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| Congenital cutis laxa |
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| Single maxillary central incisor and coloboma in hypomelanosis of Ko |
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✓ |
✓ |
black |
| A patient with onychotrichodysplasia, neutropenia and normal intelligence |
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| Centric fission, centromere‐telomere fusion and isochromosome formation: a possible origin of a de novo 12p trisomy |
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| Deletion of the short arm of chromosome 20 |
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| Announcement |
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| Distal symphalangism with involvement of the thumbs and great toes |
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| Isolated autosomal recessive renal magnesium loss in two sisters |
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| Gamma‐glutamyl transferase activity in the amniotic fluid of fetuses with chromosomal aberrations and inborn errors of metabolism |
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| Unusual pedigree patterns in families with spinal muscular atrophy |
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| Convoluted cells as a marker for maternal cell contamination in CVS culture |
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| What is the ichthyosis in the so‐called ichthyosis‐cheek‐eyebrow (ICE) syndrome? |
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| 18ph+ is a so‐called normal chromosomal variant |
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| A rapid and efficient screening method for DNA restriction fragment length polymorphisms |
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| Introduction of genomic diagnosis of classical phenylketonuria to the health care system of the German Democratic Republic |
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| Difficulties encountered in a randomization trial of CVS versus amniocentesis for prenatal diagnosis |
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| An aminopterin‐like syndrome without aminopterin (ASSAS) |
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| Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5)(p13.1 → p15.3) |
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| 18ph+ is a normal chromosomal variant |
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| Microcephalic osteodysplastic dwarfism (Type ll‐like) in siblings |
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| X‐linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female |
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| Heterogeneity of pseudoxanthoma elasticum: delineation of a new form? |
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✓ |
✓ |
Dutch and French‐Huguenot stock; Afrikaner descent |
| Effect of combinations of antioxidants on oxygen radical‐induced sister chromatid exchanges |
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| Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6 |
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✓ |
✓ |
Danish |
| Familial absence of the trapezius muscle with associated shoulder girdle abnormalities |
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| Clinical anophthalmos in a family |
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| Monosomy and trisomy of 15q24→qter in a family with a translocation t(6;15)(P25;q24) |
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| Evidence for a sperm mutation resulting in Duchenne muscular dystrophy |
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| X‐linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85 |
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| Ehlers‐Danlos syndrome: yet another type? |
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| Postaxial polydactyly in association with neurofibromatosis |
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| Announcement |
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| “Unclassifiable” weak A blood group and deficient H phenotype (Hm) in one pedigree |
|
✓ |
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| Triphalangeal thumb and brachy‐ectrodactyly syndrome |
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| Bloom's syndrome with porokeratosis of Mibeili and multiple cancers of the skin, lung and colon |
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| Chromosomal aberrations in 85 mentally retarded patients examined by high resolution banding |
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| Robinow syndrome: report of two patients and review of literature |
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| Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome |
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| Roberts syndrome and SC phocomelia. A single genetic entity |
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| A new interstitial deletion of chromosome No. 4 del(4) (q22::q25) |
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| Kallmann syndrome associated with choanal atresia |
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| Proximal 15q variant with normal phenotype in three unrelated individuals |
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| Oro‐facial‐digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases |
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| Supernumary marker chromosomes in a mentally retarded population identified as in vdup(15) |
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| Linkage of G8 (D4S10) in two Swedish families with Huntington's disease |
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| Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue |
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| Free proximal trisomy 21 without the Down syndrome |
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| Pitted enamel hypoplasia in tuberous sclerosis patients and first‐degree relatives |
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| Relative effect of parental birth weight on infant birth weight at term |
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✓ |
✓ |
Scandinavian |
| Prenatal diagnosis of glycerol‐kinase deficiency associated with a DNA deletion on the short arm of the X‐chromosome |
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| Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH‐B gene dosage effect |
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| Incidence of familial dysautonomia in Israel 1977–1981 |
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✓ |
✓ |
Ashkenazi Jews; North American Ashkenazi Jews |
| Inverted tandem duplication generates a duplication deficiency of chromosome 8p |
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| Hereditary hypotrichosis simplex of the scalp |
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✓ |
✓ |
Spanish kindred; Jewish‑Yemenite kindred |
| Major locus for red hair color linked to MNS blood groups on chromosome 4 |
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✓ |
✓ |
Danish |
| Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patients |
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| Holoprosencephaly associated with ring chromosome 21 |
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| Fragile 19p13 in a family with mental illness |
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| In vitro hyperdiploidy in dermal fibroblasts: evidence for genetic predisposition in aerodigestive tract cancer |
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| Prenatal diagnosis in Becker muscular dystrophy |
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| Population cytogenetics of autosomal fragile sites |
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| Pseudodeficiency of arylsulfatase A: a counseling dilemma |
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| Inv(4)(p16q21). A five‐generation pedigree with 24 carriers and no recombin ants |
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| Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation ‐ a new genetic syndrome |
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|
✓ |
✓ |
inbred North‐Swedish family |
| European Society for Human Genetics Cardiff, Wales June 30‐July 3, 1988 |
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| Unusual in vivo rearrangements of the Y‐chromosome in two males |
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| A new patella syndrome |
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| Technical and biological aspects of pseudomosaicism and mosaicism |
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| Tetraploidy with hydrops fetalis, cystic nuchal hygroma and 90, XX karyotype |
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| Autosomal dominant endosteal hyperostosis |
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✓ |
✓ |
Spanish |
| An abnormal pattern of amniotic fluid microvillar enzymes signalling fetal cystic fibrosis |
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| Assignment of the locus order DXS28‐ DXS67‐DMD as a spin‐off from diagnostic DNA marker analysis in a family with Duchenne muscular dystrophy |
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| Announcement |
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| Diagnosis of arylsulfatase A deficiency in intact cultured cells using a fluorescent derivative of cerebroside sulfate |
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| Adult Turner syndrome associated with chylous ascites and vascular anomalies |
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| Autosomal recessive inheritance of idiopathic dilated cardiomyopathy in a Madeira Portuguese kindred |
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✓ |
✓ |
Madeira Portuguese |
| Becker's allelic model to explain unusual pedigrees with spinal muscular atrophy |
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| 28th Annual Short Course in Medical and Experimental Mammalian Genetics |
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| Female carriers of Duchenne muscular dystrophy: a dilemma |
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| Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical‐genealogical evidence |
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| Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review |
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| Effect of vitamin E and ticlopidine on platelet aggregation in Fabry's disease |
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| Letters to the Editors: Reply to a response by Sherman & Iselius to comments on the segregation of balanced pericentric inversions.1 |
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| Announcement |
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| Familial transmission of Wolf syndrome resulting from specific deletion 4p16 from t(4;8)(p16;p21) mat. |
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| Autosomal dominant inheritance of cervical ribs |
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| A Japanese patient with the Dubowitz syndrome |
|
✓ |
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|
✓ |
✓ |
Japanese; ethnic groups |
| Pallister‐Killian syndrome: cytogenetic and molecular studies |
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| Convoluted cells as a marker for maternal cell contamination in CVS cultures |
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| The Brachmann‐de Lange syndrome in two siblings of normal parents |
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| Autosomal dominant epidermolysis bullosa dystrophics: are the Cockayne‐ Touraine, the Pasini and the Bart‐types different expressions of the same mutant gene? |
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| Elevated 1,25‐dihydroxyvitamin D and normocalcaemia in presumed familial Williams syndrome |
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| Trisomy 18 clustering in Kuwait |
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| A boy with Down's syndrome having recombinant chromosome 21 but no SOD‐1 excess |
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| On the origin of recurrent trisomy 21: determination using chromosomal and DNA polymorphisms |
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| A boy with thanatophoric dysplasia surviving 212 days |
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| Similar facia! anomalies in patients with dicentric Y and long arm Y deletion |
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| New type of spinocerebellar degeneration syndrome in a northern Swedish population |
|
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|
✓ |
✓ |
northern Swedish population; geographically isolated northern Swedish population |
| A new autosomal dominant craniofacial deafness syndrome |
|
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|
✓ |
✓ |
Jewish |
| Transcultural study of Turner's syndrome |
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| Multiple pterygium syndrome: a case complicated by malignant hyperthermia |
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| Non‐mosaic isodicentric X‐chromosome in a patient with secondary amenorrhea |
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| Langer‐Giedion syndrome with del 8 (q24.13‐q24.22) |
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| Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation |
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| Genetic history: I. The Schneersons of Lubavich |
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| Chromosome studies in IgA‐deficient patients |
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| Announcement |
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| Type III congenital cystic adenomatoid malformation of the lung: another cause of elevated alpha fetoprotein? |
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| Three‐generation transmission of Hirschsprung's disease |
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