| Brief clinical report: a 46,XY phenotypic female with Smith‐Lemli‐Opitz syndrome |
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| Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non‐invasive diagnosis of mitochondrial myopathy |
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| Anthropometric study with emphasis on hand and foot measurements in the Prader‐Willi syndrome: sex, age and chromosome effects |
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| Routine applications of DNA fingerprinting with the oligonucleotide probe (CAC)<sub>5</sub>/(GTG)<sub>5</sub> |
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| Using the polymerase chain reaction to maintain DNA probe inventories in clinical and diagnostic laboratories |
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| Short arm deletion of chromosome 1: del(1)(p13.3 p22.3) in a female infant with an extreme tetralogy of Fallot |
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| Trisomy 18 and 18p‐ features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report |
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| Annual Meeting of the European Society of Human Genetics |
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| Atypical facio‐scapulo‐humeral muscular dystrophy — a counselling dilemma |
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| The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa |
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| Characterization of the frequency of delta F508 mutation and CF haplotypes in Swedish families |
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✓ |
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Swedish families |
| Familial Jarcho‐Levin syndrome |
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✓ |
✓ |
rare in Europe; Puerto Ricans; Sicilian family |
| Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) |
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| Transcobalamins in the etiology of neural tube defects |
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| High resolution‐banded chromosomes from patients with Sotos syndrome |
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| Importance of accurate diagnosis in counseling for neural tube defects diagnosed prenatally |
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| DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia |
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✓ |
✓ |
Danish ("Danish families" / "Danish patients") |
| Prenatal diagnosis of lethal osteogenesis imperfecta in twin pregnancy |
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| The inheritance of conotruncal malformations: a review and report of two siblings with tetralogy of Fallot with pulmonary atresia |
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| A simplified protocol for fluorescence <i>in situ</i> hybridization with repetitive DNA probes and its use in clinical cytogenetics |
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| 22nd Annual Symposium of the European Society of Human Genetics GENETICS IN THE 21st CENTURY |
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| Trembling chin — a report of this inheritable dominant character in a four‐generation Canadian family |
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| Enhancement of amniotic fluid cell growth for genetic amniocentesis |
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| EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations |
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| Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients |
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| Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother |
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| A Taql RFLP at the human renal kallikrein (KLK1) locus |
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| Two Japanese cases with aspartylglycosaminuria: clinical and morphological features |
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✓ |
✓ |
Finnish populations; Japanese; Asian countries |
| Nasopalpebral lipoma‐coloboma syndrome |
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| An autosomal recessive form of benign familial neonatal seizures |
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| Announcement |
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| Age of onset in vitiligo: relationship with HLA supratypes |
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| Inv dup (8) (p21.1 → 22.1): further case report and a new hypothesis on the origin of the chromosome abnormality |
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| Tetrasomy 9p: an emerging syndrome |
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| Dizygotic twins concordant for truncus arteriosus |
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| Announcement |
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| Frequency of the phenylalanine deletion (ΔF<sub>508</sub>) in the CF gene of Belgian cystic fibrosis patients |
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| Unstable translocations: a new case? |
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| XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardation |
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| Hemophilia A: genetic prediction and linkage studies in all available families in Finland |
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✓ |
✓ |
Finnish population |
| Announcement |
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| Within‐individual variation in serum cholesterol levels: association with DNA polymorphisms at the apolipoprotein B and AI‐CIII‐AIV loci in patients with peripheral arterial disease |
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| Application of fluorescence <i>in situ</i> hybridization techniques in clinical genetics: use of two alphoid repeat probes detecting the centromeres of chromosomes 13 and 21 or chromosomes 14 and 22, |
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| Prader‐Willi syndrome and Robertsonian translocations involving chromosome 15 |
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| Multiplex PCR excludes Duchenne muscular dystrophy in a twin pregnancy |
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| Automated multiple‐cell karyotyping: a clinical feasibility study |
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| Metaphyseal acroscyphodysplasia |
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| IBM‐PC compatible software for establishing metacarpophalangeal pattern profiles |
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| A chromosome 17q <i>de novo</i> paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis |
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| Molecular identification of a small supernumerary marker chromosome by <i>in situ</i> hybridization: diagnosis of an isochromosome 18p with probe L1.84 |
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| Atelosteogenesis I and boomerang dysplasia: a question of nosology |
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| Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK |
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✓ |
✓ |
Asian Indian origin |
| Extra small marker chromosome associated with normal phenotype due to 3:1 disjunction of t(14;22) in a parent. Implications for the origin of marker chromosomes |
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| Smith‐Lemli‐Opitz syndrome in female, monozygotic twins |
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| Apolipoprotein B polymorphism and altered apolipoprotein B concentrations in Congolese blacks |
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| Saethre‐Chotzen syndrome (ACS III) in four generations |
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| Genetic epidemiology of cystic fibrosis in Saguenay‐Lac‐St‐Jean (Quebec, Canada) |
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✓ |
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| Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion |
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| Familial Caffey's disease and late recurrence in a child |
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✓ |
✓ |
Arabic‐Christian |
| Announcements |
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| Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study |
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| Coronary artery disease and apolipoprotein A‐I/C‐III gene polymorphism: a study of Saudi Arabians |
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✓ |
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| A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90 |
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| Glyceryl ethers in peroxisomal disease |
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| Pigmentary dysplasias in long survivors with mosaic trisomy 18: report of two cases |
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| The cerebro‐reno‐digital syndromes: a new community |
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| Rapp‐Hodgkin hypohidrotic ectodermal dysplasia syndrome |
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| Beals syndrome: clinical and molecular investigations in a kindred of Indian descent |
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✓ |
✓ |
Indian descent |
| Screening for fra(x) mutation and Klinefelter syndrome in mental institutions |
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| The direct early diagnosis of cystic fibrosis by the detection of the deltaF508 CFTR gene mutation in a prematurely delivered boy |
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| Monosomy of 1p13.3–22.3 in twins |
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| Cutaneous lymphangioma and amegakaryocytic thrombocytopenia in Noonan syndrome |
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| Holt‐Oram syndrome in four half‐siblings with unaffected parents: brief clinical report |
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| The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD) |
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| The ΔF508 mutation in mild adult forms of cystic fibrosis (CF) |
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| Cutis laxa: autosomal dominant inheritance in five generations |
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| Piebaldism: an autonomous autosomal dominant entity |
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| A 15‐item checklist for screening mentally retarded males for the fragile X syndrome |
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| Acrodysostosis in two generations: an autosomal dominant syndrome |
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| Interstitial deletion of chromosome 2q associated with ovarian dysgenesis |
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| Personality in 47,XXY males during adolescence |
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| A clinical, cytogenetic and familial study of 307 mentally retarded, institutionalized, adult male patients with special interest for fra(X) negative X‐linked mental retardation |
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| Malformations in a child with dup (7 pter‐p15.1) and del (7 q36‐qter) as a result of familial pericentric inversion |
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| Second case report of del(4) (q25q27) and review of the literature |
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| Long‐term follow‐up in females with Ullrich‐Turner syndrome |
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| Germinal mosaicism in Crouzon syndrome. A family with three affected siblings of normal parents |
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| A balanced complex chromosomal rearrangement (BCCR) with phenotypic effect |
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| Association of a genetic polymorphism in human apolipoprotein B‐100 with intermediate density lipoprotein concentrations |
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| Identification of a marker chromosome as inv dup(15) by molecular analysis |
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| Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth |
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| Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP‐met<sup>30</sup>) |
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| Hypoplasia of the corpus callosum and growth hormone deficiency in a boy with the XXXXY syndrome |
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| Influence of serum paraoxonase polymorphism on serum lipids and apolipoproteins |
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✓ |
✓ |
Chinese |
| Heterogeneity for mutations in medium chain acyl‐CoA dehydrogenase deficiency in the UK population |
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| Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families |
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✓ |
✓ |
Italian |
| Usher syndrome: results of a screening program in Colombia |
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| Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field |
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| <i>De novo</i> 13q partial duplication identified by cytogenetic, biochemical and molecular approaches |
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| Genetic mapping of loci for X‐linked retinitis pigmentosa |
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| Cohen syndrome: fertility in a female patient |
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| Diagnostic reliability of the cytogenetic centromere heteromorphism in the human X chromosome |
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| Erratum |
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| Genetic studies of human apolipoproteins. XVI. APOE polymorphism and cholesterol levels in the Mayans of the Yucatan Peninsula, Mexico |
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✓ |
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|
European admixture |
| Recurrent neuroleptic malignant syndrome associated with inv dup(15) and mental retardation |
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| The prevalence of chromosome diseases in the general population of Sichuan, China |
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| Robertsonian translocation and an extra microchromosome: independent origin identified by <i>in situ</i> hybridization |
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| Counselling under genetic heterogeneity: a practical approach |
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| Ring chromosome 4 in a child with mild dysmorphic signs |
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| Restriction fragment length polymorphism analysis of the C1‐inhibitor gene in hereditary C1‐inhibitor deficiency |
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| Dominantly inherited microcephaly, hypotelorism and normal intelligence |
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| Germ‐line mosaicism in Waardenburg syndrome |
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| Hereditary hemorrhagic telangiectasia: report of 15 affected cases in a Mexican family |
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✓ |
✓ |
Mexican |
| Hypertrophic cardiomyopathy in late‐onset variant of Fabry disease with high residual activity of <i>α</i>‐galactosidase A |
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| A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher‐Neuhäuser syndrome) |
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| Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally |
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| Tuberous sclerosis in two sibs of normal parents |
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| Addendum: A new syndrome of aphalangy, hemivertebrae and urogenital‐intestinal dysgenesis |
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| Chediak‐Higashi syndrome: report of a case with an ovarian tumor |
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| Announcements |
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| Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia |
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| Association of annular pancreas and duodenal obstruction – evidence for Mendelian inheritance? |
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| Hypothesis: association of the critical region of trisomy 18 and 18q2—syndrome with dermatoglyphic findings and a growth suppressor (deleted in colon cancer) locus |
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| Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophies: deletion study and carrier detection |
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| Estimates of heritability of plasma homocyst(e)ine levels in aging adult male twins |
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| An apparently new mental retardation syndrome in three elderly sisters |
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| Clinical investigation of females with the Martin‐Bell syndrome and risk assessment for carrier status |
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| Robertsonian translocation and an extra microchromosome: independent origin identified by <i>in situ</i> hybridisation |
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| Announcements |
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| DNA markers in candidate genes |
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| Absence of predictable phenotypic expression in proximal 15q duplications |
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| Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature review |
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| Poland‐Moebius syndrome in a boy and Poland syndrome in his mother |
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| Insulin‐dependent diabetes developed in a young man with Bloom's syndrome |
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| Acrodysgenital dwarfism or Smith‐Lemli‐Opitz type II syndrome |
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| First treatment of family with hereditary adductor cord paralysis |
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| Mosaic trisomy 8 associated with jejunal duplication |
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| Ectrodactyly‐ectodermal dysplasiaclefting syndrome (EEC): the clinical variation and prenatal diagnosis |
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| Tuberous sclerosis in a child with de novo translocation t(3; 12) (p26.3; q23.3) |
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| X‐linked mental retardation with bilateral clasped thumbs: report of another affected family |
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✓ |
✓ |
Sephardi Jewish family |
| Endocrine and exocrine pancreatic function and the ΔF508 mutation in cystic fibrosis |
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| Mosaic tetraploidy in a liveborn infant with features of the DiGeorge anomaly |
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| 23rd Annual Symposium of the European Society of Human Genetics July 13–16, 1991 Leuven, Belgium |
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✓ |
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|
European Society of Human Genetics |
| Simultaneous expression of the rare and common fragile sites on the X chromosome |
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| Strengths and weaknesses in the cognitive profile of youngsters with Prader‐Willi syndrome |
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| Tests of performance of four semiautomatic metaphase‐finding and karyotyping systems |
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| Robertsonian translocations in Prader‐Willi syndrome |
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| Chromosome aberrations in Sotos syndrome |
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