| Chromosomal anomalies in patients with retinoblastoma |
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| Partial trisomy 22: A recognizable syndrome |
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| Down syndrome and maternal age in Japan, 1950–1973 |
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| A diagnostic index for Down syndrome |
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| Linking of medical records to form pedigrees |
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| Announcement |
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| An autosomal dominant midline cleft syndrome resembling familial holoprosencephaly |
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| Genetic variance of erythrocyte parameters in adult male twins |
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✓ |
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| Alpha‐I‐antitrypsin (Pi) phenotypes in Lyon, France: departure from Hardy‐Weinberg equilibrium |
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| The deletion 9p syndrome. A 61‐year‐old man with deletion of short arm 9 |
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| Wolf‐Hirschhorn syndrome and balanced (4;10) translocation in the father |
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| Distribution patterns of satellite associations in human lymphocytes relative to age and sex |
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| A t(5p‐;21q+) translocation in a family with Down syndrome |
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| Linkage analysis with misclassification at one locus |
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| Mydriasis and heredity* |
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✓ |
✓ |
Aymara; Mestizo; non-Aymara |
| Hereditary cholinesterase deficiency: A report of a family with two rare genotypes |
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| Studies on the metabolic defect in Broad‐ß disease (hyperlipoproteinaemia type III) |
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| Major karyotypic abnormality in a child born to a woman with untreated malignant melanoma |
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| Bloom's syndrome. V. Surveillance for cancer in affected families |
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| On the classification of the acrocephalosyndactyly syndromes |
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| The Stickler syndrome (Hereditary arthro‐ophthalmopathy) |
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| The foetus in Duchenne muscular dystrophy: Muscle growth in tissue culture |
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| Apparently balanced de novo translocations in patients with abnormal phenotypes |
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| Interchromosomal effects in man |
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| Medical Geneticist |
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| The origin of the rapidly adhering cells found in amniotic fluids from foetuses with neural tube defects |
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| Genetic study of hyperlipoproteinaemia types IV and V |
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| Ascertainment in the sequential sampling of pedigrees |
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| Trisomy 9 syndrome |
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| Trisomy 8 syndrome |
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| 7q deletion syndrome (7q32→7qter) |
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| Phenotypic correlations in patients with ring chromosome 22 |
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| High incidence of spinal muscular atrophy type I (Werdnig ‐ Hoffmann disease) in the Karaite community in Israel |
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| Diagnosis, Treatment and Prevention of Genetic Disease |
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| MRC/DHSS Phenylketonuria Register |
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| Erratum |
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| Congenital malformation of the feet with low body height |
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| Short stature, craniofacial dysmorphism and dento‐skeletal abnormalities in a large kindred |
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| Cytogenetic study of 10 cases of infectious mononucleosis |
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| Further delineation of the supernumerary chromosome in the Cat‐Eye Syndrome |
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| Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings |
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| α‐L‐Fucosidase of human skin fibroblasts and amniotic fluid cells in tissue culture |
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| Y Y syndrome in French security settings |
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| Answer to Drs. Noël & Bénézech |
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| International Symposium of Genetic Diseases among Ashkenazi Jews |
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✓ |
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Ashkenazi Jews |
| Translocation Y/5 resulting in Cri du Chat syndrome |
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| Partial deletion of long arm of chromosome 11: del (11) (q23) |
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| Cystinuria and mental deficiency |
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| Cystic fibrosis: Studies with the oyster ciliary assay |
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| Trisomy 4p: five new observations and overview |
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| Chylothorax in two mongoloid infants |
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✓ |
✓ |
mongoloid |
| Central nervous system arteriovenous malformations in multiple generations of a family with hereditary hemorrhagic telangiectasia |
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| Sclerosteosis — An autosomal recessive disorder |
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✓ |
✓ |
Afrikaner; Afrikaner kindreds; Afrikaner people |
| Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality |
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| Selective hypoaldosteronism in Iranian Jews: An autosomal recessive trait |
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✓ |
✓ |
Iranian Jews / Jewish families from Iran |
| A new estimate of the achondroplasia mutation rate |
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| Partial 7q trisomy |
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| Serum pancreatic isoamylases in the diagnosis of cystic fibrosis heterozygotes: A non‐valuable test |
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| Translocation 9q/13q resulting in duplication (trisomy 9pter→9q22) and deficiency (monosomy 13pter→13q12) |
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| Infantile polymyoclonus: Its occurrence in second cousins |
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| Linkage studies on the Marinesco‐Sjøgren syndrome and hypergonadotropic hypogonadism |
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| Trisomy 9p syndrome and XYY syndrome in siblings |
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| Sex‐linked chondrodysplasia punctata? |
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| Announcements |
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| Two XX males in one family and additional observations bearing on the etiology of XX males |
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| Morphology of the placenta in fetal I‐cell disease |
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| Adrenoleukodystrophy (Siemerling‐Creutzfeldt disease): Heterozygote with two clonal fibroblast populations |
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| Down syndrome due to partial trisomy 21q |
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| 46, X,X‐X terminal rearrangement /<b>45</b>, X mosaicism in a child with short stature |
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| X‐linked skeletal dysplasia with mental retardation |
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| Heterozygote detection in phenylketonuria |
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| A case of double trisomy in a liveborn infant: 48, XXY, + 13 |
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| Congenital dislocation of the hip joint in Northern Sweden: Neonatal diagnosis and need for orthopaedic treatment |
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| Menkes Kinky Hair Syndrome: Is it a treatable disorder? |
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| Familial occurrence of histiocytosis |
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✓ |
✓ |
Swedish geographical isolate |
| Ganglioside G<sub>M2</sub> N‐acetyl‐ß‐D‐gafactosaminidase and asialo G<sub>M2</sub> (G<sub>A2</sub>) N‐acetyl‐ß‐D‐galactosaminidase; studies in human skin fibroblasts |
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| A case report of a presumptive +i(18p) associated with serum IgA deficiency |
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| The distribution of ancestral secondary cases in Parkinson's disease |
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| Genetic heterogeneity of hypoxanthine‐phosphoribosyl transferase in human fibroblasts of 3 families* |
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| Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21 |
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| Dermatoglyphics in Cri du Chat syndrome |
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| The 9p‐ deletion syndrome A patient with a 45,XX,‐9,‐15, + t(9/15) constitution due to maternal 3:l meiotic disjunction |
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| Heritability of “sinking” pre‐beta lipoprotein level: a twin study |
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| Two cases of Down syndrome with unusual <i>de novo</i> translocation* |
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| Non‐fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism |
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| Chromosome polymorphisms in karyotypes from amniotic fluid cell cultures |
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| Variable X‐linked recessive hypopituitarism with evidence of gonadotropin deficiency in two pre‐pubertal males |
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| Apparently balanced <i>de novo</i> translocations in patients with abnormal phenotypes: Report of 6 cases |
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| Low serum dopamine‐β‐hydroxylase activity in the dysequilibrium syndrome |
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| DNA cytophotometry in pre‐natal cytogenetic diagnosis |
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| Prenatal diagnosis of Meckel syndrome: alpha‐feto protein and beta‐trace protein in amniotic fluid |
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| The incidence of Duchenne muscular dystrophy in the South East of Scotland |
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| Trisomy 9 mosaicism |
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| Etiology of facial clefting |
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| Longer Y chromosome in criminals: A reappraisal |
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| Announcement |
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| Mild and severe Hunter syndrome (MPS II) within the same sibships |
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| Heredity of idiopathic haemochromatosis: A study of 106 families |
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| A complex mosaic with D/E translocation tdic(15;18) (p12;p11) in an oligospermic male with apparently total infertility |
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| No evidence for a correlation between behaviour and the size of the Y chromosome |
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✓ |
✓ |
Norwegian males |
| Pachyonychia congenita and steatocystoma multiplex |
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| Unusual association of Saethre‐Chotzen syndrome and congenital adrenal hyperplasia |
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| Colton blood groups: indication of linkage with the Kidd (Jk) system as support for assignment to chromosome 7 |
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✓ |
✓ |
Danish families |
| Prenatal diagnosis of dysplastic kidney disease* |
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| Announcements |
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| Penetrance and expressivity of the gene responsible for the Gardner syndrome |
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| Probable dominant inheritance in Blount's disease |
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| Normal rate of sister chromatid exchange in Down syndrome |
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| Gonadal dysgenesis with 45,X/46,X,dic(Yp) mosaicism |
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| Somatic segregation and Fanconi anemia |
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| X‐linked aqueductal stenosis |
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| Aglossia‐adactylia syndrome (special emphasis on the inheritance pattern) |
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| Facio‐cardio‐renal syndrome: a newly delineated recessive disorder |
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| Acid‐soluble glycoproteins in amniotic fluid and cystic fibrosis of the foetus |
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| Interaction of isolated Lp(a) lipoprotein with calcium ions and glycosaminoglycans <i>in vitro</i> |
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| An unusual case of prenatal diagnosis in twin pregnancy |
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| Tricho‐dento‐osseous syndrome: A scanning electron microscopic analysis |
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| Dermatoglyphic patterns in trisomy 8 syndrome* |
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| Familial occurrence of chromosome variant 17ph+ |
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| Bloom's syndrome in two Dutch families |
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✓ |
✓ |
Dutch |
| Male with 45, X karyotype |
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| Insertional translocation into the X chromosome of a 46, XY male |
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| A problem for genetic counselling — split hand deformity |
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| A family with syndactyly type II (synpolydactyly) |
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| C‐bands in seven cases of accessory small chromosomes |
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| Meiotic consequences of an intrachromosomal insertion of chromosome No. 1: a family pedigree |
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| Trisomy 18qter and trisomy mapping of chromosome 18 |
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| A chromosome No. 2 abnormality in a child with a few congenital defects* |
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| Amniocentesis in prenatal diagnosis A controlled series of 78 cases |
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| Partial Trisomy 17 |
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| Cystic fibrosis: Evidence for a genetic compound from a family study in cell culture |
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| 46,XY, t(3;22)(p2;q13) resuIting in partial trisomy for the short arm of chromosome 3 |
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| Announcement |
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| Heterogeneity in maple syrup urine disease: Aspects of cofactor requirement and complementation in cultured fibroblasts |
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| The acrocephalosyndactyly syndromes: A metacarpophalangeal pattern profile analysis |
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| Dominant ichthyosis vulgaris |
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| Note to the subscribers |
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