| Psychological aspects of amniocentesis: anxiety feelings in three different risk groups |
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| Intrafamilial variability in fucosidosis |
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| No increased chromosome breakage in skin fibroblasts from patients with musculoskeletal sarcoma |
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| Recombinational event between Norrie disease and DXS7 loci |
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| Autosomal dominant antecubital pterygium: syndromic status substantiated |
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| An unbalanced autosomal translocation (7;9) associated with feminization |
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| Ring chromosome 5 |
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| Oculocerebral syndrome with hypopigmentation (Cross syndrome): Report of two siblings born to consanguineous parents |
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✓ |
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| Sperm chromosome analysis to assess potential germ cell mosaicism |
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| Differential expression of pepsinogen isozymogens in a patient with Barrett esophagus |
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| Child neuromuscular disease in Southern Norway: Prevalence, age and distribution of diagnosis with special reference to “non‐Duchenne muscular dystrophy” |
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| Familial occurrence of isodicentric X chromosomes with different breakpoints |
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| Defective polymorphonuclear chemotaxis in patients with Turner's |
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| PRUFILE: a clinical and laboratory database for the genetics centre |
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| Terminal deletion of the short arm of chromosome 5 |
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| Trisomy (1q) (q42→qter): confirmation of a syndrome |
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| Ectrodactyly (split‐hand/split‐foot) and ectodermal dysplasia with normal lip and palate in a four‐generation kindred |
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| A photometer used for diagnosing a small‐sized 4p deletion in Wolf syndrome |
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| Announcements |
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| A new type of muscular dystrophy in two brothers: analysis by use of DNA probes suggests autosomal recessive inheritance |
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| Fertility and X‐chromosome rearrangements: isodicentric X‐chromosome formation in the mother and Xp deletion in her daughter |
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| X‐linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males |
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| Evaluation of genetic counselling: recall of information, post‐counselling reproduction, and attitude of the counsellees |
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| Dominant inheritance of tooth malpositions and their association to hypodontia |
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| Mosaicism for ring 19: a case report |
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| Bardet‐Biedl and Laurence‐Moon syndromes in a mixed Arab population |
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✓ |
✓ |
Arab population; Arabs |
| Variability gene effect on cholesterol at the Kidd blood group locus |
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✓ |
✓ |
Norwegian |
| Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism |
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| X‐linked retinoschisis and linkage |
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| Announcements |
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| <i>In situ</i> fluorescence hybridization of Y translations: cytogenetic analysis using probes Y190 and Y431 |
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| X‐linked lymphoproliferative disease: linkage studies using DNA probes |
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| Population studies of Huntington's disease in Wales |
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| Partial duplication of the eyebrows with other congenital malformations: a new syndrome |
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| Life‐span and Menkes kinky hair syndrome: report of a 13‐year course of this disease |
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| Announcements |
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| Verbal deficits in Klinefelter (XXY) adults living in the community |
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| A family with pseudodeficiency of acid α‐glucosidase |
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| An evaluation of reinforcement of genetic counselling on the consultand |
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| Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters: A new entity among the mental retardation‐macrocephaly syndromes? |
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| Partial monosomy 6q(q15q21) by <i>de novo</i> interstitial deletion |
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| Isolated “clinical anophthalmia” in an extensively affected Arab kindred |
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✓ |
✓ |
Arab |
| Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients |
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| Partial 6p trisomy associated with infantile autism |
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| Enzyme replacement in Fabry endothelial cells and fibroblasts: uptake experiments and electron microscopical studies |
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| Mixed hearing loss in Larsen Syndrome |
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| Erratum |
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| The 49,XXXXY syndrome. Clinical and psychological follow‐up data |
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| Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance |
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| Genotyping of cystic fibrosis families with linked DNA probes |
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| De novo 3q/7q translocation and associated interstitial 7q35 deletion |
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| Unstable translocation t(14;21) in a man, inherited as a t(13;14) in one of his daughters |
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| Linkage studies of Best's macular dystrophy |
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| X/Y translocation in a family with X‐linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseud |
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| Neural tube defects and omphalocele in trisomy 18 |
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| Genetic counselling in a case of TAR syndrome where the father presented malformations of the feet |
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| Genetic counselling in hypomelanosis of Ito: case report and review |
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| Karyotyping urine sediment cells confirms trisomy 12 mosaicism detected at amniocentesis |
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| Acid α‐neuraminidase deficiency: a nephropathic phenotype? |
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| Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY, +i(8p)/46,XY |
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| Ring chromosome 22 46,XX,r(22)(p11.2→q13.3) presenting with leukemoid reaction |
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| Infantile autism, fragile (X) (q27.3) and RFLP analysis in an extended Swedish family |
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| Mental retardation with pterygia, shortness and distinct facial appearance. Confirmation of a new MCA/MR syndrome |
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|
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| Ataxia‐without‐telangiectasia in two sisters with rearrangements of chromosomes 7 and 14 |
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| Effects of arachidonic acid and inhibitors of arachidonic acid metabolism on phagocyte‐induced sister chromatid exchanges |
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|
|
| Clinical features in a <i>de novo</i> interstitial deletion 15q13 to q15 |
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|
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| Homozygosity for the transthyretin‐met<sup>30</sup>‐gene in two Swedish sibs with familial amyloidotic polyneuropathy |
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|
✓ |
✓ |
Japanese, Swedish and Portuguese origin |
| Feto‐placental discrepancy on direct chromosomal preparation from chorlonic villus sampling of the second trimester |
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| Announcements |
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| Further evidence for an association between the Xbal polymorphism at the apolipoprotein B locus and lipoprotein level |
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| Rates and survival of individuals with trisomy 13 and 18 Data from a 10‐year period in Denmark |
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| A <i>de novo</i> interstitial deletion of chromosome 6 (q22.2q23.1) |
|
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|
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| Translocation t(13;14) in nine generations with a case of translocation homozygosity |
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|
| Clinical findings in 12 patients with MPS IV A (Morquio's disease) |
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| Clinical findings in 12 patients with MPS IV A (Morquio's disease) |
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|
| Clinical findings in 12 patients with MPS IV A (Morquio's disease) |
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|
|
| Microdeletions in patients with X‐linked muscular dystrophy: molecular‐clinical correlations |
|
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|
| Deletion of the short arm of chromosome 20 |
|
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|
|
| Oro‐facial‐digital syndrome II |
|
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|
| Discriminant analysis of dermatoglyphic measurements in fragile X males and females |
|
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|
|
| Association between epitopes detected by monoclonal antibody BIP‐45 and the Xbal polymorphism of Apolipoprotein B |
|
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|
|
| Chromosomal imbalance in the offspring of translocation carriers involving 7p |
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|
|
| Follow‐up of 30 Klinefelter males treated with testosterone |
|
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|
|
| Km mutant of acid α‐glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement |
|
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|
|
| Partial trisomy 20q due to paternal t(8;20) translocation: Case report and review of the literature |
|
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|
|
| X‐linked recessive aqueductal stenosis without macrocephaly |
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|
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| Announcements |
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|
| Carrier detection in Sanfilippo A syndrome |
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|
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| Amniotic fluid folate, vitamin B<sub>12</sub> and transcobalamins in neural tube defects |
|
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|
|
| Unusual segregation in a family with a 11/21 translocation |
|
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| Familial recurrent dislocation of patella with autosomal dominant mode of inheritance |
|
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|
|
| First trimester prenatal evaluation for I‐cell disease by N‐acetyl‐glucosamine 1‐phosphotransferase assay |
|
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|
|
| Partial deletion of 4p in fetal cells not present in chorionic villi |
|
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|
|
| ICE syndrome |
|
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|
|
| Announcements |
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|
|
| 6q1 monosomy: a distinctive syndrome |
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|
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| Announcements |
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| Familial limb deficiency |
|
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|
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| Are the traits for drug acetylation and oxldation co‐inherited? |
|
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|
|
| Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic |
|
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|
|
| A new family with the Townes‐Brocks syndrome |
|
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|
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| Consanguineous marriages in the Turkish population |
|
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| Congenital cystic adenomatoid malformation of the lung and alpha fetoprotein |
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| EEC syndrome sine sine? |
|
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| Monosomy, trisomy, fragile sites, and rearrangements of chromosome no. 1 in a mentally retarded male with multiple congenital anomalies |
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|
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| A patient with an interstitial deletion of the short arm of chromosome 6 |
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| Germinal mosaicism in Crouzon syndrome |
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|
|
| Diagnosis of familial amyloidotic polyneuropathy in Sweden by RFLP analysis |
|
|
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|
|
✓ |
✓ |
Swedish; 'Swedish descent' |
| Con A non‐reactive fractions of human amniotic fluid alpha‐fetoprotein in prenatal diagnosis of fetal neural tube defects and fetal abdominal wall defects |
|
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|
|
| Growth disadvantage of 45,X and 46,X,del (X) (p11) fibroblasts |
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|
|
| Distal trisomy of chromosome 17q due to inverted tandem duplication |
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| Aarskog syndrome in a Danish family: an illustration of the need for dysmorphology in paediatrics |
|
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|
✓ |
✓ |
Danish |
| The origin of isochromosomes |
|
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|
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| 16q21 is critical for 16q deletion syndrome |
|
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|
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| Heterogeneity of dominant high‐frequency sensorineural deafness |
|
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| A linkage study of the locus for X‐linked Charcot‐Marie‐Tooth disease |
|
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|
|
| Regular trisomy 21 not accompanied by increased copper‐zinc superoxide dismutase (SOD1) activity |
|
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| The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization |
|
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| The phenotype of partial dup(7q) reconsidered: a report of five new cases |
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| Neonatal screening for amino acidaemias in Karnataka, South India |
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| Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree |
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| First‐trimester diagnosis of metachromatic leucodystrophy |
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| A genetic‐diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience |
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|
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| Robertsonian translocation and extra microchromosome |
|
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|
|
| Mild expression of the Pfeiffer syndrome |
|
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|
|
| Fibroblasts of two patients with trisomy 18 show 1.5‐fold increase in peptidase A activity over normal human diploid fibroblasts |
|
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|
|
| Huntington disease carrier status and the problems involved for those affected. A psychotherapeutic experience |
|
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|
|
| Risk effect of maternal age in Pallister i(12p) syndrome |
|
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|
| False negative findings at third trimester chorionic villus sampling (C.V.S.) |
|
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| The origin of isochromosomes |
|
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|
|
| Coffin‐Lowry syndrome: a multicenter study |
|
|
|
|
|
✓ |
|
|
from five European Centers |
| Apolipoprotein E alleles and hyperlipoproteinemia in Japan |
|
|
|
|
|
|
✓ |
✓ |
Japan |
| Association of apolipoprotein ɛ4 allele with hypertriglyceridemia in obesity |
|
|
|
|
|
|
✓ |
✓ |
French |
| Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin |
|
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|
|
| Normal DNA polymorphism at the low density lipoprotein receptor (LDLR) locus associated with serum cholesterol level |
|
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|
|
| Complex chromosome rearrangements involving chromosomes 1;3 and 2;3 in two abnormal children |
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| European Society of Human Genetics Abstracts from Symposium on Neurogenetics |
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|
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| Male transmission of Apert syndrome |
|
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|
| A new rare heritable fragile site at 8q24.1 found in a Japanese population |
|
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| Pitfalls in genetic counselling for β‐thalassemia: an individual with 4 different thalassemia mutations |
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|
|
| Partial duplication of the lower limb with agenesis of ipsilateral kidney — a new syndrome: report of a case and review of the literature |
|
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|
|
| A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded children and their mothers |
|
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|
|
| HLA determinants in 70 Danish patients with idiopathic haemochromatosis |
|
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|
|
Danish patients; Germany; Brittany; Great Britain; Central Sweden |
| Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review |
|
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|
|
| Announcement: 29th Annual Short Course in Medical and Experimental Mammallan Genetics |
|
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|
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| Higher resolution banding techniques in the clinical routine |
|
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|
|
| Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile‐X families |
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|
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| Familial partial trisomy 5p resulting from segregation of an insertional translocation |
|
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| The fragile X‐chromosome: an evaluation of the results in a routine cytogenetic laboratory in the period 1981–1986 |
|
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|
|
| Myelodysplastic syndrome in a kindred with ins(16) (p11.2) |
|
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|
|
| Selective immunodeficiency with defect in interferon‐gamma induction in two sibs with recurrent infections |
|
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|
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| The Prader‐Willi syndrome and the Sotos syndrome: syndromes or sequences? |
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|
|
| Abstracts |
|
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|
|
| Mild expression of the Pfeiffer syndrome |
|
|
|
|
|
|
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|
|
| AT‐related disorder |
|
|
|
|
|
|
|
|
|
| Hereditary neurocutaneous angiomatous malformations: autosomal dominant inheritance in two families |
|
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|
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| Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias |
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