| Linkage analysis in properdin deficiency families: refined location in proximal Xp |
|
|
|
|
|
|
|
|
|
| Consanguineous marriages among parents of Down patients |
|
|
|
|
|
|
|
|
|
| Congenital hypertrophy of retinal pigment epithelium in patients with colonic polyps associated with cancer family syndrome |
|
|
|
|
|
|
|
|
|
| Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother |
|
|
|
|
|
|
|
|
|
| Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier |
|
|
|
|
|
|
|
|
|
| Autism and ring chromosome 18 mosaicism |
|
|
|
|
|
|
|
|
|
| Ring Y chromosome: cytogenetic and molecular characterization |
|
|
|
|
|
|
|
|
|
| Typical and partial cat eye syndrome: identification of the marker chromosome by FISH |
|
|
|
|
|
|
|
|
|
| Structural abnormalities of the Y‐chromosome and craniosynostosis |
|
|
|
|
|
|
|
|
|
| MASA syndrome |
|
|
|
|
|
|
|
|
|
| Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features—another case of this new syndrome |
|
|
|
|
|
|
|
|
|
| Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter |
|
|
|
|
|
|
|
|
|
| Reproductive behaviour following spontaneous loss of a pregnancy after prenatal diagnosis |
|
|
|
|
|
|
|
|
|
| DNA polymorphisms of the apolipoprotein B gene in Chinese coronary artery disease patients |
|
✓ |
|
|
|
|
|
|
|
| Ring chromosome 22 and neurofibromatosis |
|
|
|
|
|
|
|
|
|
| Deletion of 15q12 in Angelman syndrome: report of 3 new cases |
|
|
|
|
|
|
|
|
|
| Fertility in myotonic dystrophy in Saguenay‐Lac‐St‐Jean: a historical perspective |
|
|
|
|
|
|
✓ |
✓ |
French Canadians |
| The Dyggve‐Melchior‐Clausen syndrome in Indian siblings |
|
|
|
|
|
|
|
|
|
| Analysis of three glucose transporter genes in a Caucasian population: no associations with non‐insulin‐dependent diabetes and obesity |
✓ |
✓ |
|
|
|
|
|
|
|
| Deletion ΔF508 and clinical expression of cystic fibrosis‐related liver disease |
|
|
|
|
|
|
|
|
|
| Detection of the Pro<sub>664</sub>‐Leu mutation in the low‐density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from |
|
|
|
|
|
|
|
|
Dutch ancestry; Dutch descent |
| Autosomal recessive gingival fibromatosis with distinctive facies |
|
|
|
|
|
|
|
|
|
| Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families |
|
|
|
|
|
✓ |
✓ |
✓ |
Southern European populations; Italian, Spanish |
| Choanal atresia in two unrelated patients with the Coffin‐Siris syndrome |
|
|
|
|
|
|
|
|
|
| A Bedouin kindred with 19 piebalds in 5 generations |
|
|
|
|
|
|
|
|
|
| Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome? |
|
|
|
|
|
|
|
|
|
| 20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome |
|
|
|
|
|
|
|
|
|
| A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait |
|
|
|
|
|
|
|
|
|
| Hair‐nail dysplasia ‐ a new pure autosomal dominant ectodermal dysplasia |
|
|
|
|
|
|
|
|
|
| One hundred requests for predictive testing for Huntington's disease |
|
|
|
|
|
|
|
|
|
| Fragile site Xq27.3 in a family without mental retardation |
|
|
|
|
|
|
|
|
|
| Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence |
|
|
|
|
|
|
|
|
|
| Autosomal recessive blepharophimosis, ptosis, V‐esotropia, syndactyly and short stature |
|
|
|
|
|
|
|
|
|
| Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles |
|
|
|
|
|
|
|
|
|
| Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita |
|
|
|
|
|
|
|
|
|
| Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis |
|
|
|
|
|
|
|
|
|
| Familial multiple lateral telangiectatic nevi (port‐wine stains or nevi flammei) |
|
|
|
|
|
|
|
|
|
| Familial Turner syndrome |
|
|
|
|
|
|
|
|
|
| Branchio‐oculo‐facial and branchio‐oto‐renal syndromes are distinct entities |
|
|
|
|
|
|
|
|
|
| G<sub>M1</sub>‐gangliosidosis: tandem duplication within exon 3 of β‐galactosidase gene in an infantile patient |
|
|
|
|
|
|
|
|
|
| Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q |
|
|
|
|
|
|
|
|
|
| Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases |
|
|
|
|
|
|
✓ |
✓ |
"Scandinavian"; "ancestors from the same restricted area"; "common ancestors during the 17th century |
| Amyloidogenic and non‐amyloidogenic transthyretin Asn 90 variants |
|
|
|
|
|
|
✓ |
✓ |
Portuguese and German populations; American family of Italian origin |
| Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis Type II — a family study |
|
|
|
|
|
|
|
|
|
| DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia |
|
|
|
|
|
|
✓ |
✓ |
Afrikaner |
| Confirmation of true mosaic trisomy 20 in a phenotypically normal liveborn male |
|
|
|
|
|
|
|
|
|
| Pitted enamel hypoplasia in tuberous sclerosis |
|
|
|
|
|
|
|
|
|
| A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipo‐proteinemia and atypical retinitis pigmentosa |
|
|
|
|
|
|
|
|
|
| A study of ten small supernumerary (marker) chromosomes identified by fluorescence <i>in situ</i> hybridization (FISH) |
|
|
|
|
|
|
|
|
|
| Prevalence of retinitis pigmentosa in Slovenia |
|
|
|
|
|
|
|
|
|
| Reassessment of a chromosome 12q + marker by fluorescent <i>in situ</i> hybridization (FISH) |
|
|
|
|
|
|
|
|
|
| The gene for Best's macular dystrophy is located at 11q13 in a Swedish family |
|
|
|
|
|
|
✓ |
✓ |
Swedish |
| Digito‐reno‐cerebral syndrome: confirmation of Eronen syndrome |
|
|
|
|
|
|
|
|
|
| Autosomal inheritance of “senile” retinitis pigmentosa. A report of a family with consanguinity |
|
|
|
|
|
|
|
|
|
| Clinical variability of cardio‐facio‐cutaneous syndrome: report of two additional cases |
|
|
|
|
|
|
|
|
|
| Aminoacidopathies among institutionalised mentally retarded in Kuwait |
|
|
|
|
|
|
|
|
|
| A new polymorphism in exon 11 of the LDL receptor gene in healthy people and in familial hypercholesterolemia subjects |
|
|
|
|
|
|
|
|
|
| <i>De novo</i> interstitial deletion 16(q12. 1q13) of paternal origin in a 10‐year‐old boy |
|
|
|
|
|
|
|
|
|
| Detection of the Pro<sub>664</sub>‐Leu mutation in the low‐density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from |
|
|
|
|
|
|
|
|
Dutch ancestry; of Dutch descent |
| The Wolf‐Hirschhorn syndrome in fetuses |
|
|
|
|
|
|
|
|
|
| A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects |
|
|
|
|
|
|
✓ |
✓ |
Norwegian; Finnish |
| X‐inactivation in girls with Rett syndrome |
|
|
|
|
|
|
|
|
|
| Screening for the apolipoprotein B‐100 arginine<sub>3500</sub>→ glutamine mutation in patients with type III hyperlipoproteinemia |
|
|
|
|
|
|
|
|
|
| Genotyping of spinal muscular atrophy families with linked DNA probes |
|
|
|
|
|
|
|
|
|
| Reevaluation of the origin of a marker chromosome in a patient with 47,XX,r(13)(p11q34), +mar by molecular cytogenetics |
|
|
|
|
|
|
|
|
|
| Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians) |
|
|
|
|
|
|
|
|
|
| Population variation and genetics of plasma homocyst(e)ine level |
|
|
|
|
|
|
✓ |
✓ |
Norwegians |
| Severe pre‐ and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entit |
|
|
|
|
|
|
|
|
|
| Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y‐bearing mosaic Turner syndrome |
|
|
|
|
|
|
|
|
|
| Severe Silver‐Russell syndrome and translocation (17;20) (q25;q13) |
|
|
|
|
|
|
|
|
|
| Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case |
|
|
|
|
|
|
✓ |
✓ |
Amish |
| No effect of a Taql polymorphism in DNA at the endothelin I (EDN1) locus on normal blood pressure level or variability |
|
|
|
|
|
|
|
|
|
| Experiences with risk estimates for carriers of chromosomal reciprocal translocations |
|
|
|
|
|
|
|
|
|
| The trichorhinophalangeal syndrome with repeated dislocation of the patella |
|
|
|
|
|
|
|
|
|
| A new chromosome 9 variant: an extra band within the 9qh region |
|
|
|
|
|
|
|
|
|
| Monosomy 6q: report on four new cases |
|
|
|
|
|
|
|
|
|
| Phenotypic discriminants in the Waardenburg syndrome |
|
|
|
|
|
|
|
|
|
| Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetyl‐coenzyme‐A thiolase |
|
|
|
|
|
|
|
|
|
| Transmission of breast cancer ‐ a controversy resolved |
|
|
|
|
|
|
✓ |
✓ |
Danish |
| Reply to Dr. Lin |
|
|
|
|
|
|
|
|
|
| Polymorphisms at the GLUT2 (β‐cell/liver) glucose transporter gene and non‐insulin‐dependent diabetes mellitus (NIDDM): analysis in affected pedigree members |
|
|
|
|
|
|
✓ |
✓ |
Italian population |
| Lethal congenital erythroderma: a newly recognised genetic disorder |
|
|
|
|
|
|
|
|
|
| Interstitial deletion of 17pl 1.2 with brain abnormalities |
|
|
|
|
|
|
|
|
|
| DNA deletion in patients with von Recklinghausen neurofibromatosis |
|
|
|
|
|
|
|
|
|
| Y‐derived sequence detected in minute chromosomes by polymerase chain reaction and <i>in situ</i> hybridization |
|
|
|
|
|
|
|
|
|
| Occipital scalp defect associated with valvular pulmonary stenosis. A new entity? |
|
|
|
|
|
|
|
|
|
| Cleft palate and complex chromosome rearrangements |
|
|
|
|
|
|
|
|
|
| Leber hereditary optic neuropathy: estimation of number of embryonic precursor cells and disease threshold in heterozygous affected females at the X‐linked locus |
|
|
|
|
|
|
|
|
|
| Autosomal recessive microcephaly with early onset seizures and spasticity |
|
|
|
|
|
|
|
|
|
| The Charcot‐Marie‐Tooth syndrome: perceptions of disability and projected use of DNA diagnostic tests |
|
|
|
|
|
|
|
|
|
| Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk |
|
|
|
|
|
|
|
|
|
| Clinical, cytogenetic and molecular investigations in three patients with Wolf‐Hirschhorn syndrome |
|
|
|
|
|
|
|
|
|
| Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG) |
|
|
|
|
|
|
|
|
|
| A case of human chimerism detected by unbalanced chromosomal translocation |
|
|
|
|
|
|
|
|
|
| Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development |
|
|
|
|
|
|
|
|
|
| Identical twins with an autosomal recessive form of spondylocostal dysostosis |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Gaudier patients with oculomotor abnormalities do not have a unique genotype |
|
|
|
|
|
|
✓ |
✓ |
non‐Ashkenazic American |
| An HLA study in 74 Danish haemochromatosis patients and in 21 of their families |
|
|
|
|
|
|
✓ |
✓ |
Danish; Central Europe; Central Sweden; England; Ireland; Australia; USA; Canada |
| Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods |
|
|
|
|
|
|
|
|
|
| A unique <i>de novo</i> interstitial deletion del(17) (q21.3q23) in a phenotypically abnormal infant |
|
|
|
|
|
|
|
|
|
| The thymic findings in stillborns with neural tube defects |
|
|
|
|
|
|
|
|
|
| Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity |
|
|
|
|
|
|
✓ |
✓ |
Danish ("Danish pedigree") |
| A new form of X‐linked, high‐frequency, sensorineural deafness |
|
|
|
|
|
|
|
|
|
| A boy with Poland anomaly and facio‐auriculo‐vertebral dysplasia |
|
|
|
|
|
|
|
|
|
| Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenital possible X‐linked inheritance |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Influence of apolipoprotein B signal peptide insertion/deletion polymorphism on serum lipids and apolipoproteins in a Chinese population |
|
✓ |
|
|
|
|
|
|
Caucasians (France) |
| Nonrandom chromosome breakpoints in 6q deletions |
|
|
|
|
|
|
|
|
|
| Detection of subtle reciprocal translocations by fluorescence <i>in situ</i> hybridization |
|
|
|
|
|
|
|
|
|
| Familial occurrence of ring chromosome 15 |
|
|
|
|
|
|
|
|
|
| Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive α‐<i>N</i>‐acetylglucosaminidase‐producing allele |
|
|
|
|
|
|
|
|
|
| Dominantly inherited microcephaly, short stature and normal intelligence |
|
|
|
|
|
|
|
|
|
| Deletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies |
|
|
|
|
|
|
✓ |
✓ |
Southern Chinese |
| A fragile X family with high penetrance in females: risk heterogeneity? |
|
|
|
|
|
|
|
|
|
| Time of pubertal onset, testosterone levels and intelligence in 47,XXY males |
|
|
|
|
|
|
|
|
|
| Association of haptoglobin types with serum lipids and apolipoproteins in a Chinese population |
|
|
|
|
|
|
|
|
|
| X‐linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male |
|
|
|
|
|
|
|
|
|
| EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2‐q21.3 |
|
|
|
|
|
|
|
|
|
| Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence <i>in situ</i> hybridization |
|
|
|
|
|
|
|
|
|
| X chromosome inactivation patterns in haematopoietic cells of female carriers of X‐linked severe combined immunodeficiency determined by methylation analysis at the hypervariable DXS255 locus |
|
|
|
|
|
|
|
|
|
| Enzyme deficiencies as the cause of hereditary nonspherocytic hemolytic anemia |
|
|
|
|
|
|
|
|
|
| DNA probe technology: implications for service planning in Britain |
|
|
|
|
|
|
|
|
|
| Nucleotide sequence and PCR‐amplification of a polymorphic Mbol site in human DNA marker D4S95 linked to the Huntington disease locus |
|
|
|
|
|
|
|
|
|
| Prenatal prediction of cystic fibrosis in a mother homozygous for the ΔF508 mutation |
|
|
|
|
|
|
|
|
|
| StyI polymorphism in an enhancer region of the second intron of the apolipoprotein B gene in hyper‐ and hypocholesterolemic subjects |
|
|
|
|
|
|
✓ |
✓ |
Norwegian; Czech; Czech descent |
| β‐Thalassaemia mutations and their linkage to β‐haplotypes in Tamil Nadu in Southern India |
|
|
|
|
|
|
|
|
|
| Deciphering the fluorescent variability of human genomic heterochromatin by DA/DAPI technique |
|
|
|
|
|
|
|
|
|
| Intrachromosomal insertion of chromosome 7 |
|
|
|
|
|
|
|
|
|
| Differentiated recurrence risk estimations in the Prader‐Willi syndrome |
|
|
|
|
|
|
|
|
|
| Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin |
|
|
|
|
|
|
|
|
British origin |
| Human β‐mannosidosis: a 3‐year‐old boy with speech impairment and emotional instability |
|
|
|
|
|
✓ |
|
|
European descent |
| Chromosomal aberrations in Sotos syndrome |
|
|
|
|
|
|
|
|
|
| Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome? |
|
|
|
|
|
|
|
|
|
| Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature |
|
|
|
|
|
|
|
|
|
| Homozygosity for the transthyretin‐Met30‐gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences |
|
|
|
|
|
|
✓ |
✓ |
Swedish |
| On the variable expression of the Brachmann‐de Lange syndrome |
|
|
|
|
|
|
|
|
|
| Treatment for B‐cell‐type lymphoma in a girl associated with Bloom's syndrome |
|
|
|
|
|
|
|
|
|
| Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent |
|
|
|
|
|
|
✓ |
✓ |
family of German descent |
| A lethal syndrome resembling branchio‐oculo facial syndrome |
|
|
|
|
|
|
|
|
|
| The interstitial deletion of bands q33–35 of long arm of chromosome 7: a review with a new case report |
|
|
|
|
|
|
|
|
|
| A girl with 71,XXXXY karyotype |
|
|
|
|
|
|
|
|
|
| Quality control in routine chromosome analysis: prediction of total number of bands for the individual case analyzed |
|
|
|
|
|
|
|
|
|
| Carrier detection in X‐linked ocular albinism of the Nettleship‐Falls type by DNA analysis |
|
|
|
|
|
|
|
|
|
| Partial trisomy 19p: case report and natural history |
|
|
|
|
|
|
|
|
|
| Karyotype/phenotype correlation in females with short stature |
|
|
|
|
|
|
|
|
|
| Full 69,XXY triploidy and sex‐reversal: a further example of true hermaphrodism associated with multiple malformations |
|
|
|
|
|
|
|
|
|
| Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec |
|
|
|
|
|
|
✓ |
✓ |
emigrants from France to Québec in the 17th century; French Canadian; French Canadians; French Canadian population of Québec; emigrants from France |
| Announcements |
|
|
|
|
|
|
|
|
|
| Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe |
|
|
|
|
|
|
|
|
|
| Effect of chorionic villus sampling on utilization of prenatal diagnosis in women of advanced maternal age |
|
|
|
|
|
|
✓ |
✓ |
ethnic minorities |
| An additional patient with the 3C syndrome |
|
|
|
|
|
|
|
|
|
| Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier |
|
|
|
|
|
|
|
|
|
| Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle |
|
|
|
|
|
|
✓ |
✓ |
Swedish Families |