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. Important common features which emerged include short thumbs, severe photosensitivity, aggressive behaviour, and atrioventricular septal defect. The typical facial appearance becomes less obvious with age and 20% of cases did not have 2/3 toe syndactyly. Biochemical measurements of serum 7-dehydrocholesterol did not correlate with clinical severity.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Ryan AK,Bartlett K,Clayton P,Eaton S,Mills L,Donnai D,Winter RM,Burn Jdoi
10.1136/jmg.35.7.558subject
Has Abstractpub_date
1998-07-01 00:00:00pages
558-65issue
7eissn
0022-2593issn
1468-6244journal_volume
35pub_type
杂志文章abstract:BACKGROUND:Hypertrophic cardiomyopathy (HCM) is frequently fatal in infancy. Mitochondrial disease causing infantile HCM is characterised by extreme biochemical and genetic heterogeneity, but deficiency of respiratory chain complex I is observed relatively frequently. Identification of the precise genetic basis has pro...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2011-100340
更新日期:2011-10-01 00:00:00
abstract::Congenital heart defects are a major congenital abnormality and are assuming increasing importance. A study was undertaken to estimate the incidence of congenital heart defects in Northern Ireland over a five year period (1974-1978), to determine the age at diagnosis and to assess the risk of recurrence in sibs. An in...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.11.858
更新日期:1994-11-01 00:00:00
abstract::The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation coul...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.32.11.871
更新日期:1995-11-01 00:00:00
abstract::Mitochondria play a central role in the secretion of insulin by pancreatic beta-cells, and pathogenic mutations of mitochondrial DNA (mtDNA) can cause diabetes. The aetiology of type 2 diabetes has a strong genetic component, raising the possibility that genetic variants of mtDNA alter the risk of developing the disor...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.048876
更新日期:2007-06-01 00:00:00
abstract::Our primary objective was to estimate, by one year and five year intervals, maternal age specific risk rates for Down syndrome among whites and among other races from two different populations, metropolitan Atlanta and south west Ohio, using live birth and prenatally diagnosed cases ascertained during 1970-1989. The f...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.6.482
更新日期:1998-06-01 00:00:00
abstract::Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. The natural history evolves in two phases, a severe failure to thrive during the first months contrasting with a normal weight gain ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.35.3.238
更新日期:1998-03-01 00:00:00
abstract::The risk of breast cancer for unaffected men who test positive for a BRCA2 mutation is based on very few retrospective studies. We have used both retrospective and prospective analysis in 321 families with pathogenic BRCA2 mutations. Three breast cancers occurred in male first-degree relatives after family ascertainme...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.075176
更新日期:2010-10-01 00:00:00
abstract::Shortening of the tubular bones of the hands and feet with cone shaped epiphyses is known as peripheral dysostosis and is common to several syndromes including acrodysostosis and Albright's hereditary osteodystrophy (AHO). The underlying defect in AHO is known to be a reduction in bioactivity of the alpha subunit of t...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.2.133
更新日期:1997-02-01 00:00:00
abstract:BACKGROUND:Inherited abnormalities of complement are found in ∼60% of patients with atypical haemolytic uraemic syndrome (aHUS). Such abnormalities are not fully penetrant. In this study, we have estimated the penetrance of the disease in three families with a CFH mutation (c.3643C>G; p. Arg1215Gly) in whom a common li...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102498
更新日期:2014-11-01 00:00:00
abstract:BACKGROUND:Lynch syndrome, an autosomal-dominant disorder characterised by high colorectal and endometrial cancer risks, is caused by inherited mutations in DNA mismatch repair (MMR) genes. Mutations fully abrogating gene function are unambiguously disease causing. However, missense mutations often have unknown functio...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-101987
更新日期:2014-04-01 00:00:00
abstract:BACKGROUND:Congenital fibrosis of the extraocular muscles (CFEOM) is a heterogeneous group of disorders that may be associated with other anomalies. The association of a CFEOM syndrome with ulnar hand abnormalities (CFEOM/U) has not been reported to date. OBJECTIVE:To describe a new autosomal recessive syndrome of CFE...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.026138
更新日期:2005-05-01 00:00:00
abstract::Familial amyotrophic lateral sclerosis (FALS) has recently been shown to be linked to chromosome 21 markers in a subset of families. However, we were unable to show linkage between FALS and chromosome 21 markers which flank the putative FALS locus in UK families. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.4.318
更新日期:1993-04-01 00:00:00
abstract::Ten useful two allele restriction fragment length polymorphisms of the low density lipoprotein receptor gene were used for haplotype analysis in 45 unrelated familial hypercholesterolaemic (FH) patients, 60 normal controls, and 32 FH homozygotes, all of whom were white Afrikaners. Pedigree analysis in 27 informative h...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.4.255
更新日期:1989-04-01 00:00:00
abstract::Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 are responsible for a subset of the muscular dystrophies. In this study we aim to characterise the nature and frequency of abnormalities of these proteins in an Australian population and to formulate an investigative algorithm to aid in approaching the ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.5.379
更新日期:1998-05-01 00:00:00
abstract:BACKGROUND:There are few empirical data to inform the debate surrounding the use and regulation of direct-to-consumer (DTC) genome-wide disease risk tests. This study aimed to determine the long term psychological, behavioural, and clinical impacts of genomic risk testing for common disease. METHODS:The Scripps Genomi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101207
更新日期:2013-06-01 00:00:00
abstract::The phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes was investigated in three populations in the Sudan and one population in Nilgiris, India. No significant consistent association of red cell acid phosphatase phenotypes was observed with these po...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.18.4.271
更新日期:1981-08-01 00:00:00
abstract:BACKGROUND:Mitochondrial DNA (mtDNA) disorders have a high clinical variability, mainly explained by variation of the mutant load across tissues. The high recurrence risk of these serious diseases commonly results in requests from at-risk couples for prenatal diagnosis (PND), based on determination of the mutant load o...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-104615
更新日期:2018-02-01 00:00:00
abstract::An 18 month old girl with dysmorphic features, severe developmental delay, multiple strawberry naevi, and capillary naevi is described. No previous report of a similar association of features has been identified. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.10.883
更新日期:1993-10-01 00:00:00
abstract:BACKGROUND:Graves' disease is a female preponderant autoimmune illness and the contribution of the X chromosome to its risk has long been appreciated. However, no X-linked susceptibility loci have been indentified from recent genome-wide association studies (GWAS). METHODS:We re-examined the X chromosome data from our...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-101595
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenaemia and afibrinogenaemia) or the quality of the circulating fibrinogen (dysfibrinogenaemia). Extensive allelic heterogeneity has been found for all three disorders: in congenital afibrinogenaemia >30 mutations, the maj...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2005.033530
更新日期:2005-09-01 00:00:00
abstract:BACKGROUND:BRCA1 and BRCA2 (BRCA1/2) variants classified ambiguously as variants of uncertain significance (VUS) are a major challenge for clinical genetic testing in breast cancer; their relevance to the cancer risk is unclear and the association with the response to specific BRCA1/2-targeted agents is uncertain. To m...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmedgenet-2018-105565
更新日期:2018-12-01 00:00:00
abstract::Using DNA samples obtained from two unrelated patients, diagnosed as having familial dysalbuminaemic hyperthyroxinaemia (FDH), exons 1-14 which span the entire coding region of the human serum albumin (HSA) gene were amplified by the polymerase chain reaction. The sequence of each of the 14 DNA fragments was then dete...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.5.355
更新日期:1994-05-01 00:00:00
abstract:BACKGROUND:Submicroscopic subtelomeric chromosome defects have been found in 7.4% of children with moderate to severe mental retardation and in 0.5% of children with mild retardation. Effective clinical preselection is essential because of the technical complexities and cost of screening for subtelomere deletions. MET...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.38.3.145
更新日期:2001-03-01 00:00:00
abstract::After the publication of evidence of the existence of a DNA polymorphism closely linked to the gene for Huntington's disease, attitudes towards predictive testing for Huntington's disease were evaluated in Belgium in a group of persons who are at risk for the disease and in a smaller group of their partners. The perce...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.5.275
更新日期:1987-05-01 00:00:00
abstract:PURPOSE AND SCOPE:The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been...
journal_title:Journal of medical genetics
pub_type: 杂志文章,实务指引
doi:10.1136/jmedgenet-2015-103144
更新日期:2015-07-01 00:00:00
abstract:BACKGROUND:Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life. METHODS:14 patients with EE were investigated for mutations in the ETHE1 gene. RESUL...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2008.058271
更新日期:2008-07-01 00:00:00
abstract::Although a seasonal trend in the birth distribution has been reported in cystic fibrosis (CF), this finding is still very controversial. The birth distribution of 113 patients with cystic fibrosis born in Saguenay-Lac-St-Jean (complete ascertainment) was analysed using two different statistical methods. Our results sh...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.9.613
更新日期:1991-09-01 00:00:00
abstract::A mild, non-transfusion dependent, beta thalassaemia phenotype is described in a Dutch patient homozygous for a mutation in the cleavage-polyadenylation sequence of the beta globin gene. The molecular basis of the mutation, AATAAA greater than AATGAA, was determined using denaturing gradient gel electrophoresis (DGGE)...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.4.252
更新日期:1991-04-01 00:00:00
abstract::Split hand-split foot malformation (SHFM) is a genetically heterogeneous limb developmental defect characterised by the absence of digital rays and syndactyly of the remaining digits. Three disease loci have recently been mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q25 respectively (SHFM3). We report the m...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.12.996
更新日期:1996-12-01 00:00:00
abstract::A male infant, partially trisomic for a small segment of chromosomes 6 and 22 resulting from a maternal translocation, is described. Comparison of the phenotypic features of the proband with those noted in partial 6p and partial 22 trisomies revealed some common features found in both chromosome anomalies but especial...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.2.185
更新日期:1986-04-01 00:00:00