| Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome |
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| Announcements |
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| Low frequency mosaicism of normal cells in a 16‐year‐old girl with trisomy 18 |
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| Acute adrenal crisis complicating hypertensive congenital adrenal hyperplasia due to 11β‐hydroxylase deficiency |
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| <i>De novo</i> t(5p;21q) in a patient previously diagnosed as monosomy 21 |
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| Geneticists approach ethics: an international survey |
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| Affected sibs with fragde X syndrome exhibit an age‐dependent decrease in the size of the fragile X full mutation |
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| Eronen syndrome identical with DOOR syndrome? |
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| Kallmann syndrome in two sisters with other developmental anomalies also affecting their father |
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| Oxygen radicals potentiate the genetic toxicity of tobacco‐specific nitrosamines |
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| A case of Johanson‐Blizzard syndrome complicated by diabetes mellitus |
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| Familial thyroglossal duct cyst |
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| High‐resolution chromosome analysis in autosomal recessive disorders: Laurence‐Moon‐Bardet‐Biedl syndrome |
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| Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives |
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| Announcement |
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| Fertility and the cri du chat syndrome |
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| Chromosome aberrations in Rubinstein‐Taybi syndrome |
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| Exclusion map of the gene for neuraminidase from 10(pter → p15.1) |
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| Taurodontism of the mandibular first permanent molar distinguishes between the tricho‐dento‐osseous (TDO) syndrome and amelogenesis imperfecta |
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| Correlates of genetic risk for non‐syndromic cleft lip with or without cleft palate |
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| Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS |
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| A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families |
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| Second observation of Silver‐Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25 |
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| Retinitis pigmentosa: problems associated with genetic classification |
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| Slipped capital femoral epiphysis associated with Rubinstein‐Taybi syndrome |
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| Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia |
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| Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3‐q23 |
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| Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12 |
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| Apolipoprotein B gene DNA polymorphisms are associated with macro‐ and microangiopathy in non‐insulin‐dependent diabetes mellitus |
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| Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16 |
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| No effect of TaqI polymorphism at the human renal kallikrein (KLK1) locus on normal blood pressure level or variability |
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| Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly |
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| Serum lipoprotein(a) levels in elderly black and white men in the Charleston Heart Study |
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✓ |
✓ |
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| Additional case of <i>de novo</i> interstitial deletion del(17)(q21.3q23) and expansion of the phenotype |
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| Insertion/deletion (I/D) polymorphism at the locus for angiotensin I‐converting enzyme and myocardial infarction |
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| Adenine for guanine substitution — pairs 5‘ to the apolipoprotein (APO) A4 gene: relation with hgh density lipoprotein cholesterol and APO A‐I concentrations |
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| Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population |
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✓ |
✓ |
Spanish population |
| Fluorescence <i>in‐situ</i> hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13<sub>q</sub>15<sub>q</sub>) in Prader‐Willi syndrome |
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| Trisomy 13 (Patau syndrome) with an 11‐year survival |
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| Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis |
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✓ |
✓ |
Swedish |
| A case of full triploidy (69,XXX) of paternal origin with unusually long survival time |
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| Normal genetic variation at the low density lipoprotein receptor (LDLR) locus influences cholesterol levels in children |
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✓ |
✓ |
Czechoslovakia; Czech children; population studied |
| Different clinical features in monozygotic twins: a case of 7q — syndrome |
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| Normal immunological status in four patients with ectrodactyly‐ectodermal dysplasia‐clefting syndrome (EEC‐syndrome) |
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| Huntington's disease: predictive testing and the molecular genetics laboratory |
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| Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus |
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| Case reports of malformations associated with maternal diabetes: history and critique |
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| Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus |
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| Neu‐Laxova syndrome: report of a case from Turkey |
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✓ |
✓ |
Turkish parents; from Turkey |
| Miller postaxial acrofacial dysostosis syndrome. Follow‐up data of a family and confirmation of autosomal recessive inheritance |
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| Prenatal diagnosis of congenital sialidosis |
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| Congenital contractural arachnodactyly in two double second cousins: possible homozygosity |
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✓ |
✓ |
Bedouin |
| Proposed: an international code of ethics for medical genetics |
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| Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13) |
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| Parental origin of the supernumerary chromosome in trisomy 18 |
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| Infertility in carriers of two bisatellited marker chromosomes |
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| Frontonasal dysplasia, lipoma of the corpus callosum and tetralogy of Fallot |
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| Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation |
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✓ |
✓ |
Two unrelated Mexican girls; the mongoloid slanted eyes |
| 46XY/47XYY mosaicism and fragile X |
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| DNA polymorphisms of the apolipoprotein B gene are associated with obesity and serum lipids in healthy Indians in Singapore |
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✓ |
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| Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22) |
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✓ |
✓ |
Greek |
| Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome |
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✓ |
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| Prenatal detection of an inverted X chromosome in a male |
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| A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3 |
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✓ |
✓ |
Sicilian origin |
| The Myhre syndrome: report of two cases |
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| Dacryocystitis associated with osteopoikilosis |
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| Reply to the letter from Woods and Smith |
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| Neither uniparental disomy nor skewed X‐inactivation explains Rett syndrome |
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| Xbal polymorphism in DNA at the apolipoprotein B locus is associated with myocardial infarction (MI) |
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| Application of fluorescence <i>in situ</i> hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion |
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| Familial syndactyly type III—report of a large pedigree |
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| Familial exudative vitreoretinopathy: multiple modes of inheritance |
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| Insertion /deletion (I/D) polymorphism at the locus for angiotensin I‐converting enzyme and parental history of myocardial infarction |
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| Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy |
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| Twins and their mildly affected mother with Weaver syndrome |
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| Hypoalphalipoproteinaemia and polymorphisms associated with reduced expression of the apolipoprotein A‐I gene and resolution of disputed paternity in a large English family |
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| A balanced autosomal translocation (3;9) associated with primary hypogonadism and dorsal spine stenosis |
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| Late‐onset familial amyloid polyneuropathy with the TTR Met 30 mutation in France |
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✓ |
✓ |
French; Portuguese |
| Early onset cerebellar ataxia with retained tendon reflexes: prevalence and gene frequency in an Italian population |
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✓ |
✓ |
Italian population; Northwestern Italy |
| On planting alfalfa and growing orchids: the cloning of the gene causing Huntington disease |
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| The hand‐foot‐genital syndrome: on the variable expression in affected males |
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| Chromosome painting using FISH (fluorescence <i>in situ</i> hybridization) with chromosome‐6‐specific library demonstrates the origin of a <i>de novo</i> 6q+ marker chromosome |
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| Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling |
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| Linkage analysis‐in a family with complete type congenital stationary night blindness with and without myopia |
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| Satellite polymorphism or Y/autosome translocation? |
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| Familial bilateral antecubital pterygia with severe renal involvement in nail‐patella syndrome |
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| Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients |
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| Phenotypic intrafamilial heterogeneity in cystic fibrosis |
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| The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence <i>in situ</i> hybridization |
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| Association of Shokeir syndrome (congenital universal alopecia, epilepsy, mental subnormality and pyorrhea) and giant pigmented nevus |
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| Effect of the fragile X anomaly on body proportions estimated by pedigree analysis |
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✓ |
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| Application of molecular and cytogenetic techniques to the detection of a <i>de novo</i> unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21 |
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| Prenatal screening for cystic fibrosis: attitudes and responses of participants |
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| Mspl RFLP in exon 18 of the LDL receptor gene detectable by PCR |
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| Bilateral vocal cord paralysis in Williams syndrome |
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| Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence |
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| Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia Norwegian subjects |
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✓ |
✓ |
Norwegian (Norwegian population/subjects) |
| Williams syndrome and subaortic stenosis |
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| Suggestion of linkage between manic‐depressive illness and the enzyme phosphoglycolate phosphatase (PGP) on chromosome 16p |
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✓ |
✓ |
Danish |
| Two simultaneous terminal deletions in the same patient: a one—vs two‐hit origin |
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| Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome |
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| Four <i>RSAI</i> restriction fragment melting polymorphisms in the region of the insulin receptor gene encoding for the alpha subunit |
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| Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression |
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| A mild form of mucolipidosis type III in four Baluch siblings |
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| 11q trisomy detected by fluorescence <i>in situ</i> hybridization |
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| Disease profile of 400 institutionalized mentally retarded patients in Kuwait |
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| Erythrocyte membrane cation carrier in Down syndrome |
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| Guadalajara camptodactyly syndrome type I. A corroborative family |
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| Characterization of a deleted Y chromosome in a male with Turner stigmata |
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| Familial occurrence of hereditary renal adysplasia with Müllerian anomalies |
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| A case of a female infant with simultaneous occurrence of <i>de novo</i> terminal deletions on chromosome 14q and 20p |
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| Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families |
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| Attitudes of Dutch general practitioners towards presymptomatic DNA‐testing for Huntington disease |
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| Hyperkeratosis‐hyperpigmentation syndrome: a confirmative case |
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| 46,XY del(18) (q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q— syndrome |
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| Multipoint linkage analysis in X‐linked juvenile retinosclusis |
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| Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance |
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| Del(2q) — cause of the wrinkly skin syndrome? |
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| Identification of the chromosome 14 origin of a C‐negative marker associated with a 14q32 deletion by chromosome painting |
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| Can cytomegalovirus cause brachydactyly? A case report and review of the literature |
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| XbaI polymorphism of the apolipoprotein B gene and plasma lipid and lipoprotein response to dietary fat and cholesterol: a clinical trial |
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| Screening of deletions and RFLP analysis in Turkish DMD/BMD families by PCR |
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| Craniofacial anthropometric studies in Waardenburg syndrome type I |
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| A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975–1984 |
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| Malignant lymphoma in a Bloom's syndrome patient treated with insulin |
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| Announcement |
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| Ridge hypoplasia and ridge dissociation: minor physical anomalies in autistic children |
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| Announcements |
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| MCA/MR syndrome with features of Hallermann‐Streiff syndrome and 4q deficiency/ 14q duplication |
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| Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height |
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| Case of human chimerism detected by unbalanced chromosome translocation? |
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| <i>De novo</i> DNA rearrangement in atypical facioscapulohumeral muscular dystrophy |
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| Oral‐facial‐digital syndrome with fibular aplasia: a new variant |
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| Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13;18) (q12;q11) carrier |
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| Consanguineous marriages among parents of patients with Down syndrome |
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| Retinitis pigmentosa in Southern Africa |
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| Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases |
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| Fra(16)(q21) in a family with four spontaneous abortions |
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| Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations |
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| <i>De novo</i> interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1) |
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| Hemophilia B in a 46,XX female probably caused by non‐random X inactivation |
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| Infant mortality in myotonic dystrophy in Saguenay‐Lac‐St‐Jean: a historical perspective |
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| A preliminary trial of couple screening for cystic fibrosis: designing an appropriate information leaflet |
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| Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q1c to 6q16 |
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| The DM mutation; diagnostic applications in the Finnish population |
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✓ |
✓ |
Finnish population |
| Phenotype of 49,XXYYY |
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| Identification of a supernumerary der(18) chromosome by a rational strategy for the cytogenetic typing of small marker chromosomes with chromosome‐specific DNA probes |
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