Abstract:
:A unique connective tissue disorder characterised by the triad of dentinogenesis imperfecta, blue sclerae, and multiple wormian bones has been identified in 20 members of three generations of a large kindred of mixed ancestry in South Africa. The skeletons of affected subjects were moderately osteoporotic but, apart from minimal bowing of the femora and some vertebral flattening in late adulthood, this abnormality produced no untoward sequelae. Bone fragility was present in one young male, while a mother and her daughter had deafness of uncertain relationship with the primary disorder. Dental discolouration and a liability to caries were the only important complications. The condition is best regarded as yet another variety of osteogenesis imperfecta. It is inherited as an autosomal dominant trait with relatively consistent phenotypic expression.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Beighton Pdoi
10.1136/jmg.18.2.124subject
Has Abstractpub_date
1981-04-01 00:00:00pages
124-8issue
2eissn
0022-2593issn
1468-6244journal_volume
18pub_type
杂志文章abstract::Generalised recessive dystrophic epidermolysis bullosa (EB) is a severe inherited disease in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21, with no evidence of ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.9.749
更新日期:1995-09-01 00:00:00
abstract::Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.2008.060871
更新日期:2009-01-01 00:00:00
abstract::An infant with features of trisomy 10p syndrome was found to have an abnormal chromosome 10: 46, XY, rec(10), dup p, inv(10) (p11q26) mat. The infant's mother was heterozygous for a pericentric inversion involving chromosome 10 (46, XX, inv (10) (p11q26). The infant's derivative chromosome was apparently produced by m...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.18.1.59
更新日期:1981-02-01 00:00:00
abstract::HLA and Gm typing were carried out in 16 families. Seven families included 10 sib pairs with rheumatoid arthritis (RA) and autoimmune thyroid disease (ATD) respectively, and nine families included 16 sib pairs with RA and circulating thyroid autoantibodies respectively. Eight, 11, and seven sib pairs with either RA or...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.22.6.451
更新日期:1985-12-01 00:00:00
abstract::We identified a large French-Canadian family with 21 cases of breast cancer, including two affected brothers. Segregation of markers from chromosome 13q in this family showed linkage to the BRCA2 gene locus (lod = 3.67 at D13S289). A number of cancers of other types occurred in this family, including three cases of pr...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.12.982
更新日期:1995-12-01 00:00:00
abstract::A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia interm...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.19.6.437
更新日期:1982-12-01 00:00:00
abstract::The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mecha...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.1.34
更新日期:1980-02-01 00:00:00
abstract:BACKGROUND:The genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear. METHODS:Two Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2020-107042
更新日期:2020-09-08 00:00:00
abstract::PurposeThe purpose of this document is to provide guidance for the use of next-generation sequencing (NGS, also known as massively parallel sequencing or MPS) in Canadian clinical genetic laboratories for detection of genetic variants in genomic DNA and mitochondrial DNA for inherited disorders, as well as somatic var...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106152
更新日期:2019-12-01 00:00:00
abstract:BACKGROUND:We report here clinical, cytogenetic and molecular data for a pair of monochorionic diamniotic twins with paternal isodisomy for chromosome 19. Both twins presented with dysmorphic features and global developmental delay. This represents, to our knowledge, the first individual human case of paternal uniparen...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2018-105328
更新日期:2018-12-01 00:00:00
abstract::Approximately 5%-10% of breast cancers are due to genetic predisposition caused by germline mutations; the most commonly tested genes are BRCA1 and BRCA2 mutations. Some mutations are unique to one family and others are recurrent; the spectrum of BRCA1/BRCA2 mutations varies depending on the geographical origins, popu...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2015-103132
更新日期:2016-01-01 00:00:00
abstract::In total, 200 families were reviewed with directly transmitted, cytogenetically visible unbalanced chromosome abnormalities (UBCAs) or euchromatic variants (EVs). Both the 130 UBCA and 70 EV families were divided into three groups depending on the presence or absence of an abnormal phenotype in parents and offspring. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.2004.026955
更新日期:2005-08-01 00:00:00
abstract:BACKGROUND:Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), a disorder characterised by the development of hamartomas or benign tumours in various organs as well as the variable presence of epilepsy, intellectual disability (ID) and autism. TSC1, TSC2 and the recently described protein TBC1D7 form ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-101680
更新日期:2013-11-01 00:00:00
abstract::We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological studies showed a mixed axonal-demyelinating sensory-motor polyneuropathy with focal slowing of conduction velocities at the common sites of entrapment. Morphological studies on sural nerve biopsy from the proband showed ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.11.889
更新日期:1997-11-01 00:00:00
abstract:BACKGROUND:The mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a clear understanding of the natural course of disease. To obtain more insight into the disease burden and the progression ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106800
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.043059
更新日期:2007-01-01 00:00:00
abstract::We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Impo...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.7.558
更新日期:1998-07-01 00:00:00
abstract:BACKGROUND:Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the en...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.073445
更新日期:2010-10-01 00:00:00
abstract::This report describes 7-month-old monozygotic twin female infants with GM1 gangliosidosis type I. In addition to the usual clinical and biochemical abnormalities generalized intracutaneous telangiectasis were present in both infants. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.14.2.132
更新日期:1977-04-01 00:00:00
abstract::There are 23 females known with Duchenne or Becker muscular dystrophy (DMD or BMD) who have X;autosome translocations that disrupt the X chromosome within band p21. A female with a t(X;4)(p21;q35) translocation was identified prenatally at routine amniocentesis. At birth, she was found to have a raised CK level, consi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.7.426
更新日期:1990-07-01 00:00:00
abstract:BACKGROUND:Clinical evaluation of CNVs identified via techniques such as array comparative genome hybridisation (aCGH) involves the inspection of lists of known and unknown duplications and deletions with the goal of distinguishing pathogenic from benign CNVs. A key step in this process is the comparison of the individ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102633
更新日期:2014-11-01 00:00:00
abstract::The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.37.5.321
更新日期:2000-05-01 00:00:00
abstract::Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and cleft palate. In the current investigation, linkage analysis has been used to make first trimester diagnostic predictions in a pregnancy at high risk of producing an affected chi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.7.603
更新日期:1996-07-01 00:00:00
abstract::We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.29.5.326
更新日期:1992-05-01 00:00:00
abstract::A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represen...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.5.394
更新日期:1976-10-01 00:00:00
abstract::Osteogenesis imperfecta (OI) is characterised by brittle bones and caused by mutations in the type I collagen genes, COL1A1 and COL1A2. We identified a mutation in the carboxyl-terminal propeptide coding region of one COL1A1 allele in an infant who died with an OI phenotype that differed from the usual lethal form and...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.39.1.23
更新日期:2002-01-01 00:00:00
abstract::As a result of the increasing use of genome wide telomere screening, it has become evident that a significant proportion of people with idiopathic mental retardation have subtle abnormalities involving the telomeres of human chromosomes. However, during the course of these studies, there have also been telomeric imbal...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.39.10.734
更新日期:2002-10-01 00:00:00
abstract::World wide data on presymptomatic testing for Huntington's disease using closely linked DNA markers show that 1479 persons at risk received completed test results up to the end of 1991. Testing has been carried out in 19 countries, with at least 88 centres involved, and numbers have levelled off after a peak in 1990. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.12.1020
更新日期:1993-12-01 00:00:00
abstract:BACKGROUND:Familial haemophagocytic lymphohistiocytosis (FHL) has an autosomal recessive mode of inheritance and consists of at least three subtypes. FHL2 subtype with perforin (PRF1) mutation accounts for 30% of all FHL cases, while FHL with MUNC13-4 mutation was recently identified and designated as FHL3 subtype. OB...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.021121
更新日期:2004-10-01 00:00:00
abstract::The evidence that genetic and immunogenetic influences operate in the causation of pre-eclampsia/eclampsia (gestosis) is reviewed. The problems of definitive diagnosis are discussed along with the possibility of a multifactorial aetiology. The difficulties of differentiating trigger and effector mechanisms are also co...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.3.200
更新日期:1976-06-01 00:00:00