Journal of Medical Genetics - 1991

257 articles | Last updated: 2025-12-03 14:12:57

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Facial measurements in the newborn.
The Genetics of Neurological Disorders
Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.
Disorganisation: a possible cause of apparent conjoint twinning.
Genetic Variation and Disorders in Peoples of African Origin							✓		Peoples of African Origin
Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.
IVF and Justice: Moral, Social and Legal Issues Related to In Vitro Fertilisation
Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.
Identification of new DNA markers close to the myotonic dystrophy locus.
PCR amplification of genomic DNA from a 24 year old lysate derived from washed human erythrocytes.
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.
Hypercoagulability in a patient with Marfan syndrome.
Sister chromatid exchange evaluation as an aid to the diagnosis and exclusion of Fanconi's anaemia by induced chromosome damage analysis.
Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3
Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy.
Cystic fibrosis screening and community genetics.
49,XXXXY syndrome: behavioural and developmental profiles.
Chromosome Banding
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.
Association of less common cystic fibrosis mutations with a mild phenotype.
The sex ratios of probands and of secondary cases in conditions of multifactorial inheritance where liability varies with sex.
A familial case of chromosome 16p variant.
POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations)
Down Syndrome: The Facts
Backgrounds of Human Cytogenetics: a Bibliography
Genetic counselling in facioscapulohumeral muscular dystrophy.
Linkage analysis in adenomatous polyposis coli: the use of four closely linked DNA probes in 20 UK families.
Leiomyosarcoma in a patient with trisomy 8 mosaicism.
Further evidence for the location of the BPES gene at 3q2.
X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy.
Genotype prediction in the fragile X syndrome.
Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families.
A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease.
Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.
Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism
Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2.
Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele.
Analysis of RFLPs and DNA deletions in the Chinese Duchenne muscular dystrophy gene.
Restriction fragment length polymorphisms associated with the factor VIII and factor IX genes in Polynesians.
Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome.
The acetylator phenotypes of Saudi Arabians with coronary arterial atheroma.
The variable clinical spectrum and mental prognosis of the acrocallosal syndrome.
Epidermolysis Bullosa: A Comprehensive Review of Classification, Management and Laboratory Studies
Reproductive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates.
The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations.
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.
Adult polycystic kidney disease in a kindred of West Indian origin exhibits linkage with the 3'HVR probe on chromosome 16.							✓		West Indian origin
Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome.
The Rubinstein- Taybi Syndrome in the Netherlands: A Clinical Genetic Survey
Genes and Cancer
Unknown syndrome: proportionate short stature, mandibular prognathism, and short femoral necks
Genes for intelligence on the X chromosome.
In Situ Hybridisation: Application to Developmental Biology and Medicine
Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.
Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.
Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata.
Interstitial deletion of chromosome 13: prognosis and adult phenotype.
Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus.
False positive results with immunoreactive trypsinogen screening for cystic fibrosis owing to trisomy 13.
The human genes for complement components 6 (C6) and 9 (C9) are closely linked on chromosome 5.
Do familial neural tube defects breed true?
Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?
Spondylocostal dysplasia and neural tube defects.
Meiosis
Flow Cytogenetics
BOOK REVIEWS
Molecular and cytogenetic studies of the Prader-Willi syndrome.
A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q.
A new form of autosomal dominant arthrogryposis.
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.
Pathology of the Human Embryo and Previable Fetus. An Atlas
Obstetric Genetics
Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.
Severe manifestations of oculoauriculovertebral spectrum in a cocaine exposed infant.
Kuwait type faciodigitogenital syndrome.
Cystic fibrosis in Bulgaria.
Floating Harbor and the good ship Shprintzen.
A single lymphocyte culture for fragile X induction and prometaphase chromosome analysis.
Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus.
A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
Tetrasomy 12p (Pallister-Killian syndrome).
The origin of a morphologically unidentifiable human supernumerary minichromosome traced through sorting, molecular cloning, and in situ hybridisation.
Clinical and radiographic dental findings in X linked hypohidrotic ectodermal dysplasia.
Analysis of problems in making the reproductive decision after genetic counselling.
Human Achondroplasia--A Multi-disciplinary Approach
On the parental origin of de novo mutation in man.
Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene.
Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome.
Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).
Third International Symposium on the Neuronal Ceroid-Lipofuscinoses (Batten's Disease), Indianapolis, Indiana, USA
Mendelian Inheritance in Man
The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.
What do young people think about screening for cystic fibrosis?
Epidemiological and genetic study in 207 cases of oral clefts in Alsace, north-eastern France.
Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.
Localisation of the MRX3 gene for non-specific X linked mental retardation.
Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.
Segregation and sporadic cases in families with Hunter's syndrome.
Wilms' tumour and a de novo (1;7) translocation in a child with bilateral radial aplasia
A fertile male with cystic fibrosis: molecular genetic analysis.
Cranioectodermal dysplasia in sibs.
Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation.
X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.
Osteogenesis imperfecta: translation of mutation to phenotype.
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.
Application of D'Arcy Thompson's coordinate transformation approach to clinical genetics photographs using image processing techniques.
Congenital intestinal pseudo-obstruction associated with a giant platelet disorder
Chromosome in situ suppression hybridisation in clinical cytogenetics.
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?
Unusual inheritance of Becker type muscular dystrophy.
Two additional patients representing the possible human homologue for the mouse mutant disorganisation (Ds)
Aarskog syndrome.
Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.
BOOK REVIEWS
Molecular Genetics in Diseases of Brain, Nerve and Muscle
Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.
Cerebrocostomandibular syndrome in four sibs, two pairs of twins.
A cystic fibrosis patient homozygous for the nonsense mutation R553X.
A genetic study of neurofibromatosis 1 in south-western Ontario. I. Population, familial segregation of phenotype, and molecular linkage.
Transmission of Proteus syndrome from father to son?
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.
Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.
Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).
Familial cutaneous photosensitivity and colitis with lethal outcome.
The Ohdo blepharophimosis syndrome: a third case.
Human homologue for the mouse mutant disorganisation: does it exist?
An analysis of amplified insulin gene products in diabetics of Indian origin.							✓		Indian origin
A cytogenetic and molecular study of a series of 45,X fetuses and their parents.
The CHARGE association and athyreosis.
DMD carrier detection in a female with mosaic Turner's syndrome.
The genetics, demography, and health of minority populations: a symposium held by The Galton Institute, September 1990
Child naevus is not ILVEN.
Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.
Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.
Molecular Aspects of Development and Aging of the Nervous System
Non-specific X linked mental retardation.
Contribution to carrier detection and genetic counselling in X linked retinoschisis.
Sanfilippo syndrome type D in two adolescent sisters.
The Holt-Oram syndrome.
Maternal transmission of translocation 2;21 associated with Down's syndrome.
Non-penetrance in tuberous sclerosis.
Translocation 19;Y in a child with Bannayan-Zonana phenotype.
Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?
Single maxillary central incisor in a girl with del(18p) syndrome.
De novo ring chromosome 3: a new case with a mild phenotype.
Abstracts of the Meeting of the Clinical Genetics Society Held on 28 November 1990 at the Institute of Education, London
Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.
Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.
A new recessive syndrome of unusual facies and multiple structural abnormalities.
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.
Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Mobius spectrum of defects'.
Two distinct mutations at a single BamHI site in phenylketonuria.
An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes.
Abstracts of the meeting of the Association of Clinical Cytogeneticists held on 4 to 6 July 1990 at the University of Manchester, Owens Park
A familial X;autosome translocation associated with Becker type muscular dystrophy?
Fanconi Anaemia: Clinical, Cytogenetic and Experimental Aspects
Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.
Social and genetic implications of customary consanguineous marriage among British Pakistanis. Report of a meeting held at the Ciba Foundation on 15 January 1991
Human Prenatal Diagnosis
London Dysmorphology Database
Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene.
Three cases of 16q duplication.
Molecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth International Symposium on X Linked Mental Retardation, Strasbourg, France, 12 to 16 August 1991 (organiser Dr J-L Mandel
Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
Phenotypic expression of the first liveborn 68,XX triploid newborn.
Syndromes of the Head and Neck
Genetic aspects of antibiotic induced deafness: mitochondrial inheritance.
Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting.
Aldolase B mutations in Italian families affected by hereditary fructose intolerance.							✓		Italian families
Genetic analysis in cystic fibrosis using the amplification refractory mutation system (ARMS): the J3.11 MspI polymorphism.
Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.
The Genetics of Mood Disorders
Coffin-Siris syndrome.
Deletion of chromosome 13 in Moebius syndrome.
Genetic Approaches in the Prevention of Mental Disorders
Human Genetics: A Modern Synthesis
Genochondromatosis.
Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome.
Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.
Correction
Maternal uniparental disomy for chromosome 14.
Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.
Reproductive behaviour of families segregating for Cooley's anaemia before and after the availability of prenatal diagnosis.
Birth distribution in cystic fibrosis in Saguenay-Lac-St-Jean, Quebec, Canada.
High 64Cu uptake and retention values in two clinically atypical Menkes patients.
A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
Mosaic partial trisomy 17q2.
Growth hormone deficiency in a girl with the Cohen syndrome.
International Directory of Genetic Services
Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.
An animal model for maternal phenylketonuria.
A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
Watson syndrome: is it a subtype of type 1 neurofibromatosis?
The fragile X syndrome.
A Dictionary of Genetics
Clustering of malformations in the families of South American oral cleft neonates.
A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).
Two cases of interstitial deletion 1p.
Cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers: a possible example of the disorganisation mutant.
Inherited amyloidosis.
Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.
Analysis of the origin of Turner's syndrome using polymorphic DNA probes.
Molecular and cytogenetic analysis of a familial microdeletion of Xq.
Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.							✓		Ashkenazi Jewish population
A new case of proximal 10q partial trisomy.
Advances in Human Genetics
Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.
A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.
Somatic recombination may explain linear psoriasis.
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
A new folate sensitive fragile site at 1p21.3.
Prevalence of fragile X syndrome.
HLA markers, hormones, and disease.
X linked mental retardation.
On the incidence of fits and mental retardation in tuberous sclerosis.
Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.
Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
Familial occurrence of tumours of the choroid plexus.
Parental mosaicism in de novo translocation (21q21q) Down's syndrome.
Prenatal Diagnosis and Prognosis
Age at onset in Huntington's disease: effect of line of inheritance and patient's sex.
De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).
Abstracts of the Meeting of the Clinical Genetics Society Held on 20 to 22 March 1991 at Belfast City Hospital
Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.
Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female.
Postaxial acrofacial dysostosis (Miller) syndrome: a new case.
The frequency of mental retardation in hypochondroplasia.
Hereditary motor and sensory neuropathies.
A male with type I orofaciodigital syndrome.
Microtia and short stature: a new syndrome.
Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.
Pericentromeric heterochromatin of chromosome 3.
Cloning of the gene for the fragile X syndrome: implications for the clinical geneticist.
Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.
The midline craniofacial skeleton in holoprosencephalic fetuses.
Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy.
Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.
Pitfalls in counselling: the craniosynostoses.
Cornelia de Lange syndrome with ring chromosome 3.
Molecular studies of non-disjunction in trisomy 16.
Floating-Harbor syndrome.
Male proband with X linked retinoschisis apparently inherited from his father's family.
Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England.
Hereditary multiple exostoses.
Application of PCR amplification of DNA from paraffin embedded tissue sections to linkage analysis in familial retinoblastoma.
Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia.
Essential Medical Genetics
Von Hippel-Lindau disease: a genetic study.
A rare heteromorphism of chromosome 20 and reproductive loss.
Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.
Neurosonography and pathology in the Schinzel-Giedion syndrome.
Haematometra in the Langer-Giedion syndrome.
Genomic Imprinting