Journal of Medical Genetics - 1987

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

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Editorial
Noonan syndrome.
Prevalence and mode of inheritance of major genetic eye diseases in China.
Brachmann-de Lange syndrome in sibs.
Genetic Risk
The Harvey Lectures
X Linked Mental Retardation 2
The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands.
Genetics and the Law III
Mendelian Inheritance in Man
Human Embryo Research: Yes or No?
Methodology in Medical Genetics
The Origin and Evolution of Sex
Identification of deletions in the human low density lipoprotein receptor gene.
Linkage studies in a pedigree with Van der Woude syndrome.
A de novo 3p;8p unbalanced translocation resulting in partial dup(3p) and partial del(8p).
De novo inv(5)(p15q22), del(5)(p15) in a boy with cri du chat syndrome.
Duplication 9p due to unequal sister chromatid exchange.
Ataxia Telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood
Duplication 14(q31----qter).
Seventh International Congress of Human Genetics, Berlin: Workshop: Training in medical genetics
The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27.
Dr John Alexander Fraser Roberts, CBE, FRS, MA, DSc, MD, FRCP, FRCPsych
Oncogenes: Their Role in Normal and Malignant Growth
Genetics of Man
Leukemia: Recent Advances in Biology and Treatment
Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population.
Trisomy 13 in monozygotic twins discordant for major congenital anomalies.
Linkage analysis of neurofibromatosis.
Ethnic Differences in Reactions to Drugs and Xenobiotics
Genetic disorders of collagen.
The fragile X syndrome in a large family. II. Psychological investigations.
Trisomy 1 in an eight cell human pre-embryo.
Disorders of haemoglobin in China.
Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.
Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy.
The Alagille syndrome (arteriohepatic dysplasia).
An unbalanced t(X;10) mat translocation in a child with congenital abnormalities.
Monitoring of Occupational Genotoxicants
The molecular genetics of human chromosome 6.
Congenital anal anomalies in two families with the Opitz G syndrome.
Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.
Ultrasound identification of apparently normal male genitalia in a 46,X,+mar fetus.
Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism.
Interstitial del(13)(q21.3q31) associated with psychomotor retardation, eczema, and absent suck and swallowing reflex.
Molecular Biology of Muscle Development
Human chromosome 22.
Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis.
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.
A Dictionary of Genetics
Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).
Interstitial deletion 1p in a 30 year old woman.
Abstracts of the meeting of the Clinical Genetics Society held at the Royal College of Physicians, London on 5 and 6 December 1986
Human Embryology. The Development of Structure and Function
Endocrine Genetics and Genetics of Growth
Interstitial deletion and ring chromosome derived from 16q.
`Spontaneous and induced chromosome aberrations in germ cells of mammals and man'
Bone Marrow Transplantation for Treatment of Lysosomal Storage Diseases
Spina Bifida in South Wales. Can it be Prevented?
Pericentric inversion in human chromosome 1 and the risk for male sterility.
Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome?
Beta thalassaemia mutations in the Turkish population.
Training course for senior registrars in clinical genetics, Brindle Lodge, NWRHA, 1 to 5 September 1986
Human Prenatal Diagnosis
Human Chromosomes. Structure, Behaviour, Effects
Adult polycystic kidney disease.
Localisation of a mutation producing autosomal dominant polycystic kidney disease without renal failure.
Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients.
Congenital scalp defects with distal limb reduction anomalies.
Second International Workshop on Multiple Endocrine Neoplasia Type 2 (MEN 2), Cambridge, 17 to 20 September 1986
The London Dysmorphology Database.
Gene mapping and neurogenetics.
Tuberous sclerosis: a large family with no history of seizures or mental retardation.
Homozygosity in piebald trait.
The effect of hydroxyurea on the expression of the common fragile site at 3p14.
Prenatal diagnosis of haemophilia B in the first trimester.
Report on Conference on New Prospects in Genetic Diseases, Royal College of Physicians, 3 and 4 December 1986
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies
Malignant melanoma in families of children with osteosarcoma, chondrosarcoma, and adrenal cortical carcinoma.
Deletion (13)(q13q14.3) with retinoblastoma: confirmation and extension of a recognisable pattern of clinical features in retinoblastoma patients with 13q deletion.
Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.
Partial deletion 21: case report with biochemical studies and review.
Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.
The Genetics of the Skeleton
Cell and Molecular Biology of the Cytoskeleton
Cytogenetic and molecular studies of trisomy 13.
Multiple pterygium syndrome: evolution of the phenotype.
Non-deletion haemoglobin H disease in Papua New Guinea.
Psychosocial and economic profile of a sample of families with thalassaemic children in Lebanon.
The Neurobiology of Down syndrome
Ring XY bivalent: a new phenomenon at metaphase I of meiosis in man.
Frontonasal dysplasia associated with tetralogy of Fallot.
Direct detection of haemoglobin E with MnlI.
Translocation chromosome map of oncogenes.
An improved lymphocyte culture technique: deoxycytidine release of a thymidine block and use of a constant humidity chamber for slide making.
Neurogenetics: Principles and Practice
Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis.
FG syndrome.
Microcephaly, microphthalmos, and retinal folds: report of a family.
Seventh International Congress of Human Genetics. Satellite meeting: Cytogenetics and molecular genetics of human neoplasia
Craniofrontonasal dysplasia.
Attitudes towards predictive testing in Huntington's disease: a recent survey in Belgium.
Folate sensitive site at 10q23 and its expression as a deletion.
A case of de novo interstitial deletion 3q.
Editorial
Osteogenesis imperfecta type IIA: evidence for dominant inheritance.
18q-syndrome and extraskeletal Ewing's sarcoma.
Molecular genetics of human chromosome 16.
Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16.
Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8.
Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl.
The First European Symposium on Neurofibromatosis
Neurofibromatosis: Phenotype, Natural History and Pathogenesis
The fragile X syndrome in a large family. I. Cytogenetic and clinical investigations.
A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?
Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation.
Familial t(8;15)(p23.3;q22.3): report of two cases with dup(15) (q22.3----qter).
Editorial note
Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly.
Craniostenosis: Diagnosis, Evaluation, and Management
Biochemistry and Biology of Plasma Lipoproteins
Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia.
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.
Thrombocytopenia and absent radius (TAR) syndrome.
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.
Research strategies in human behaviour genetics.
Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.
Behaviour disorder in monosomy 10qter.
Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q.
Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis.
A child with partial monosomy 6q secondary to a maternal direct insertional event.
A girl with the Weaver syndrome.
Molecular genetics of human chromosome 21.
Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?
Angelman (happy puppet) syndrome in a girl and her brother.
Seventh International Congress of Human Genetics, Berlin: Clinical impressions
Ring 20 chromosome phenotype.
A new case of (Y;1) balanced reciprocal translocation in an infertile man with Hodgkin's disease.
Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.
Incontinentia pigmenti in a boy with Klinefelter's syndrome.
Goldberg's Genetic and Metabolic Eye Disease
Pericentric inversion and sterility.
Mental retardation with blepharophimosis.
Further exclusion data for the Von Recklinghausen neurofibromatosis gene: a genetic linkage study of 19 polymorphic markers.
Rubinstein-Taybi syndrome.
Linkage analysis using multiple Xq DNA polymorphisms in normal families, families with the fragile X syndrome, and other families with X linked conditions.
Prenatal diagnosis of alpha 1 antitrypsin deficiency and estimates of fetal risk for disease.
Variant forms of ataxia telangiectasia.
Chorionic Villi Sampling
Trisomy 13 ascertained in a survey of spontaneous abortions.
An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings.
Seventh International Congress of Human genetics: Satellite meeting: Alphafetoprotein in diagnosis and screening
Annual Review of Genetics
The New Genetics and Clinical Practice
Seventh International Congress of Human Genetics. Update on the X chromosome
Familial Cancer
Inherited haemoglobin variants in a South African population.
Ectrodactyly in sisters and half sisters.
Seventh International Congress of Human Genetics, Berlin: Ethical practices
Chemical Warfare Arms Control: A Framework for Considering Policy Alternatives
Partial trisomy 6q: case report with necropsy findings.
Advances in Human Genetics
Midtrimester genetic amniocentesis in eastern Ontario: a review from 1970 to 1985.
Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis.
The HLA linked iron loading gene in an Afrikaner population.							✓		Afrikaner population
Inbreeding and the incidence of childhood genetic disorders in Karnataka, South India.
Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe.
Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4.
An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome.
Human Growth: A Multidisciplinary Review
Intrafamilial variation in Cohen syndrome.
Partial trisomy 17q and a generalised bone dysplasia in a 12 week fetus.
The craniocardioskeletal syndrome and the Noonan-like short stature syndrome are possibly the same entity.
Correspondence
Von Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations.
Von Recklinghausen neurofibromatosis: a linkage study of candidate and random marker genes.
Linkage analysis of British and Indian families with Von Recklinghausen neurofibromatosis.
DNA linkage analysis in Von Recklinghausen neurofibromatosis.
Linkage studies in peripheral neurofibromatosis.
High resolution gene mapping of the human alpha globin locus.
Editorial
Hydatidiform mole: parental chromosome aberrations in partial and complete moles.
A lethal presentation of de novo deletion 7q.
Hypohidrotic ectodermal dysplasia.
The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen.
Bridging markers defining the map position of X linked hypophosphataemic rickets.
Mapping the human alpha globin gene complex to 16p13.2----pter.
Ulnar-mammary syndrome.
A Genetic Switch: Gene Control and Phage
Advances in Gene Technology: Molecular Biology of the Endocrine System
G and R banding of 11p deletions in aniridia--Wilms' tumour.
Seventh International Congress of Human Genetics: Molecular genetics
New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.
The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy.
Primary lymphoedema when found with distichiasis is of the type defined as bilateral hyperplasia by lymphography.
Correction
Clinical manifestations of trisomy 5q.
Surnames and Genetic Structure
Localisation of Y chromosome sequences in normal and 'XX' males.
A previously undescribed syndrome of thoracic dysplasia and communicating hydrocephalus in two sibs, one diagnosed prenatally by ultrasound.
Endocardial fibroelastosis: possible X linked inheritance.
Seventh International Congress of Human Genetics, Berlin: Clinical cytogenetics
Royal College of Physicians Conference on Medical Ethics, 23 October 1986
Issues and Reviews in Teratology
Structural rearrangements in the parents of children with primary trisomy 21.
Neuraminidase deficiency: case report and review of the phenotype.
Genetic Counseling for Clinicians
High frequency of beta thalassaemia in a small island population in Melanesia.
Distal trisomy 14q.
Postaxial acrofacial dysostosis (Miller) syndrome.
Partial monosomy 12p13.1----13.3.
Human Cytogenetics: A Practical Approach
Trends in pyloric stenosis incidence, Atlanta, 1968 to 1982.
A chromosome supplement to the London Dysmorphology Database.
Detection of centromeric regions of chromosomes by immunofluorescence: procedure and application.
The Second Manchester Birth Defects Conference, 1 to 3 October 1986
An exclusion map for Von Recklinghausen neurofibromatosis.
Genetic linkage studies with neurofibromatosis: the question of heterogeneity.
A genomic search for linkage of neurofibromatosis to RFLPs.
Congenital non-chylous pleural effusion with Down's syndrome.
Self-Assessment in Medical Genetics
Cholinesterase
In the Name of Eugenics
DNA polymorphisms of the human alpha 1 antitrypsin gene in normal subjects and in patients with pulmonary emphysema.
Prevalence and genetic aspects of deaf mutism in Shanghai.
Abstracts of the meeting of the Clinical Genetics Society. 2 and 3 April 1987, Leicester.
IVF and Goldenhar syndrome.
Fetal valproate syndrome: is there a recognisable phenotype?
A Dictionary of Genetic Engineering
Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition.
Human Hemoglobin Genetics
Pyle disease (metaphyseal dysplasia).
Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation.
Translocation X;13 in a patient with retinoblastoma.
De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
Exclusion mapping.
The clinical spectrum of the Fraser syndrome: report of three new cases and review.
Congenital cutis laxa with retardation of growth and development.
Chorionic Villus Sampling. Fetal Diagnosis of Genetic Diseases in the First Trimester