Abstract:
:This is a study of 138 index patients with retinitis pigmentosa (RP) and their families, in which the selection of index patients was solely on the basis of their residence in Birmingham. Clinical analysis showed that severe disease was as likely to indicate dominant or non-genetic RP as to indicate recessive disease, and that each of three genetic types of uncomplicated RP could probably be divided into two entities. Autosomal dominant RP accounted for at least 22% of index patients but this was likely to be an underestimate because of the low penetrance of the disease. Autosomal recessive disease accounted for not more than 10% of index patients and its rarity was indicated by a high consanguinity rate. Recognisable X linked disease occurred in about 14% of index patients, a similar figure to other studies. The 37% of patients with uncomplicated RP and no obviously affected relative have either autosomal dominant RP or non-genetic RP; it is difficult to know the relative proportions of each. The risks for descendants of patients with recessive disease are clear. The risks of symptomatic RP in the offspring of patients who do, or who might have, dominant RP range from 1 in 2 to 1 in 37 according to the family history and the severity of the RP.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Bundey S,Crews SJdoi
10.1136/jmg.21.6.421subject
Has Abstractpub_date
1984-12-01 00:00:00pages
421-8issue
6eissn
0022-2593issn
1468-6244journal_volume
21pub_type
杂志文章abstract::Various heteromorphisms of the 9q heterochromatic area have been reported. In most instances, the extra G positive band is accompanied by an extra C band. We describe a family where the extra G band is totally euchromatic and does not include an extra C band. It is not clear whether these two types of variant chromoso...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.7.613
更新日期:1993-07-01 00:00:00
abstract::Mucopolysaccharidosis Type I (Hurler's syndrome) was diagnosed in an 18 week old fetus of a woman with 1 affected child by direct assay of glycosaminoglycans in amniotic fluid. Subsequently the fetus was aborted by hysterotomy and diagnosis was confirmed by analyzing glycosaminoglycans in fetal liver, electron microg...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.10.2.144
更新日期:1973-06-01 00:00:00
abstract::The ICF syndrome is a rare disorder where patients show undercondensation of the heterochromatic blocks of chromosomes 1, 9, and 16 along with variable immunodeficiency. The undercondensation of the heterochromatic block appears to be restricted to a portion of PHA stimulated T cells. Patients with this syndrome also ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.7.502
更新日期:1995-07-01 00:00:00
abstract:BACKGROUND:22q11.2 deletion syndrome (22q11.2DS) is a multisystem disease with a prevalence of 1/4000. Variable expression of congenital and later onset features contributes to its under-recognition. Longevity in those surviving childhood is believed to be normal but data are limited. METHODS:We prospectively followed...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2008.063800
更新日期:2009-05-01 00:00:00
abstract::Four studies reported an increasing incidence of pyloric stenosis during the late 1970s from geographically diverse areas of the United Kingdom. It was suggested that the increased incidence might be related to changes in infant feeding practices. We used data from the Metropolitan Atlanta Congenital Defects Program, ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.8.482
更新日期:1987-08-01 00:00:00
abstract:BACKGROUND:Congenital chromosome abnormalities are relatively common in our species and among structural abnormalities the most common class is balanced reciprocal translocations. Determining the parental origin of de novo balanced translocations may provide insights into how and when they arise. While there is a gener...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.069716
更新日期:2010-02-01 00:00:00
abstract:BACKGROUND:Bardet-Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The second group, the chaperonin-like proteins BBS6, BBS10, and B...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.073205
更新日期:2010-07-01 00:00:00
abstract:BACKGROUND:The cytokines tumour necrosis factor (TNF)alpha and interleukin (IL)10 have been implicated in the pathogenesis of Crohn's disease (CD), with increased concentrations reported in patients with active disease. However, limited data exist on their effects on disease phenotype in the same population. Certain si...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2004.027425
更新日期:2005-06-01 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::A child is presented with a 49,XXXXX chromosomal constitution bringing to 12 the total number of children described with this karyotype. Comparison of this child's features with previously reported cases indicates a clinically recognisable specific pattern of malformations referred to as the penta-X syndrome. X chromo...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.5.392
更新日期:1980-10-01 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::A 10 1/2 year old female with skeletal abnormalities was referred for genetic consultation because of learning disabilities and a suggestion of 'Turner-like' stigmata. Cytogenetic analysis revealed a paracentric inversion of an X(q13.1q26.1) chromosome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.22.2.140
更新日期:1985-04-01 00:00:00
abstract::Published reports on the sex ratio of spina bifida have been reviewed. With one exception, there seems to be no evidence of variation in the sex ratio of spina bifida. In particular, unlike anencephaly, the sex ratio of spina bifida seems to be unrelated to the prevalence of the malformation: this (M/(M+F)) is of the ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.5.384
更新日期:1979-10-01 00:00:00
abstract::In this paper we report on the molecular defect underlying apolipoprotein CII (apoCII) deficiency in an Italian kindred. ApoCII serves as cofactor for lipoprotein lipase (LPL) in triglyceride hydrolysis of chylomicrons and very low density lipoproteins. Homozygous apoCII deficiency manifests with type I hyperlipoprote...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.8.622
更新日期:1994-08-01 00:00:00
abstract::Analysis of a large tuberous sclerosis pedigree confirmed linkage to a locus on the long arm of chromosome 9, with recombination events placing the disease gene distal to gelsolin and proximal to dopamine beta-hydroxylase. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.3.224
更新日期:1993-03-01 00:00:00
abstract:OBJECTIVE:To establish national clinical guidelines and integrated care pathways for five conditions (tuberous sclerosis (TS), Huntington's disease (HD), myotonic dystrophy (MD), neurofibromatosis type 1 (NF1), and Marfan syndrome (MS)) and audit their use in Scotland. DESIGN:Systematic review of published reports fol...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.37.9.684
更新日期:2000-09-01 00:00:00
abstract:BACKGROUND:Orofacial cleft (OFC) is the most prevalent craniofacial birth defect. Genes involved in one-carbon, folate and vitamin B12 metabolisms have been associated with OFC but no study performed a concomitant assessment on genes involved in these three pathways. OBJECTIVE:We looked for potential genetic variants ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-104111
更新日期:2016-12-01 00:00:00
abstract::Gaucher disease results, in most patients, from mutations in the gene encoding glucocerebrosidase. Mutation D409H is the third most frequent in Spanish patients, accounting for 5.7% of all mutated alleles. This allele is associated mainly with the neurological forms of the disease. Recently, homozygosity for the D409H...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.9.775
更新日期:1998-09-01 00:00:00
abstract::Classical genetic theory, based on assumed equal mutation rates in males and females, predicts that one-third of all cases of Duchenne muscular dystrophy (DMD) in a generation are born as new mutants to non-carrier mothers. Furthermore, less than half the mothers of apparently isolated cases appear to be carriers on t...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.20.1.1
更新日期:1983-02-01 00:00:00
abstract:BACKGROUND:The high prevalence of tobacco use in some developing nations, including Bangladesh, poses several public health challenges for these populations. Smoking behaviour is determined by genetic and environmental factors; however, the genetic determinants of smoking behaviour have not been previously examined in ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-102151
更新日期:2014-05-01 00:00:00
abstract:BACKGROUND:The AZFc region on the human Y chromosome has been found to be functionally important in spermatogenesis. Complete AZFc deletion is one of the most frequent causes of male infertility and the roles of partial AZFc deletions (gr/gr and b2/b3 deletions) in spermatogenesis are controversial. METHODS:To further...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.049056
更新日期:2007-07-01 00:00:00
abstract::The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high penetrance. With the recent rapid expansion of genetic testing brought about by wide availability of high-throughput massively parallel sequencing platforms, acc...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2018-105872
更新日期:2019-06-01 00:00:00
abstract::Reaction to medical, social, and genetic implications of Marfan syndrome was evaluated by means of two questionnaires, the first after various tests before discussion of the diagnosis, the second after full discussion of the patient's diagnosis. Thirty-seven members of a family known to be at risk for Marfan syndrome ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.2.81
更新日期:1992-02-01 00:00:00
abstract::Three patients with accessory small ring chromosomes derived from chromosome 1 are presented together with additional clinical details and cytogenetic analyses of a previously reported patient. Cytogenetic analysis was undertaken by FISH using a reverse painting probe generated from one of the patients by microdissect...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-11-01 00:00:00
abstract:BACKGROUND:Genomic imprinting is a process causing genes to be expressed according to parental origin. Imprinting acts to coordinate fetal and prenatal growth, as well as control postnatal adaptations. Studies on human imprinting are confounded by tissue availability, sampling variability and limitations posed by tissu...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-100858
更新日期:2012-11-01 00:00:00
abstract::A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.1.66
更新日期:1992-01-01 00:00:00
abstract::DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.22.4.305
更新日期:1985-08-01 00:00:00
abstract::The clinical and haematological findings in 19 Liberians probably homozygous for beta thalassaemia are described. The haemoglobin patterns were similar with Hb F levels in the 30-50% range and a raised level of Hb A2 and, although the clinical severity varied widely, over half the cases were symptomless and even the m...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.12.2.165
更新日期:1975-06-01 00:00:00
abstract:BACKGROUND:Spontaneous read-through of a premature termination codon (PTC) has so far not been observed in patients carrying nonsense mutations. This report describes a patient with junctional epidermolysis bullosa who was expected to die because of compound heterozygous nonsense mutations in the gene LAMA3 (R943X/R115...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2011.089615
更新日期:2011-09-01 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