Abstract:
:A method is presented of calculating recurrence risks at a disease locus where there is information from flanking marker loci. This method uses output from the computer programme LIPED. Information from carrier detection tests and mutation at the disease locus can be taken into account in certain pedigrees.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Winter RMdoi
10.1136/jmg.22.1.12subject
Has Abstractpub_date
1985-02-01 00:00:00pages
12-5issue
1eissn
0022-2593issn
1468-6244journal_volume
22pub_type
杂志文章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:Sonic hedgehog (SHH) plays an important role in defining the anterior-posterior axis in the developing limbs. A highly conserved non-coding sequence about approximately 1 Mb upstream from the sonic hedgehog gene (SHH) was shown to be a long range regulator for SHH expression in the limb bud. Point mutations ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.055699
更新日期:2008-06-01 00:00:00
abstract::A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.6.525
更新日期:1993-06-01 00:00:00
abstract::A large body of data on segregating families is used to generate specific recurrence risks conditional on sex and birth order for the best-fitting model of polygenes plus maternal effect. The method is general for diseases of complex inheritance, and lies within the competence of any serious genetic clinic. The questi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.14.6.408
更新日期:1977-12-01 00:00:00
abstract::We describe a patient with developmental delay, mild dysmorphic features, and monosomy of 7q35. Only one other patient with an interstitial deletion of this band has been previously reported. A review of clinical features of these two children did not show similarities in dysmorphic features. Reports of patients with ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.9.738
更新日期:1994-09-01 00:00:00
abstract::Linkage between the locus for cystic fibrosis and other genetic markers was explored in 40 families from Birmingham and 20 from Manchester. No strong evidence was found for linkage with any of the markers examined. There was evidence against close linkage with ABO, HLA, and Rh. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.6.417
更新日期:1976-12-01 00:00:00
abstract::A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and NADP, and a normal pH optimum, together with a marked increase in utilisation of the substrate ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.3.191
更新日期:1980-06-01 00:00:00
abstract:BACKGROUND:Congenital hereditary non-progressive hypoplasia of the cerebellum is a rare condition, frequently associated with other neuropathology such as lissencephaly. Clinically, the condition is associated with variable degrees of mental retardation, microcephaly, seizures, and movement disorders due to ataxia. In ...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2005.040030
更新日期:2006-05-01 00:00:00
abstract::Two cases of growth failure, microcephaly, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation are described. At birth, both cases had cytogenetic mosaicism in lymphocytes and skin fibroblasts, in case 1 ring chromosome 21 and monosomy 21 and in case 2, deletion of chromosome 21 and monosomy 21...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.7.534
更新日期:1994-07-01 00:00:00
abstract::Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non-syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A-->G is the most prevalent in all populations tested so far. Recently, th...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.042440
更新日期:2006-11-01 00:00:00
abstract:INTRODUCTION:The Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in TLK2 were recently associated with 'Mental Retardation Autosomal Dominant 57' (MRD57, MIM# 618050), a neurodevelopme...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2020-107281
更新日期:2020-12-15 00:00:00
abstract::Germline mutations in highly penetrant autosomal dominant genes explain about 5% of all breast cancer, and heritable mutations in the BRCA1 breast and ovarian cancer susceptibility gene account for 2-3% of breast cancer in the general population. Nevertheless, the presence of such mutations is highly predictive of dis...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.2.116
更新日期:1998-02-01 00:00:00
abstract:BACKGROUND:Hirschsprung disease (HSCR) is a life-threatening congenital disorder in which the enteric nervous system is completely missing from the distal gut. Recent studies have shown that miR-4516 markedly inhibits cell migration, and as one of its potential targets, MAPK10 functions as a modifier for developing HSC...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106615
更新日期:2020-09-01 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::Two patients with partial monosomy of the short arm of chromosome 8 are described. Their clinical features were very similar. Comparison with previously reported patients confirms the existence of an 8p- syndrome. The importance of cytogenetic investigations in all infants with major congenital heart defect and facial...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.2.153
更新日期:1986-04-01 00:00:00
abstract::Retinal photoreceptor dystrophies (RD) are a highly heterogeneous group of genetic disorders of the retina, representing the most frequently inherited form of visual handicap, affecting approximately 1.5 million people world wide. To date, more than 40 genetic loci have been implicated in RD. One of them, the CORD2 lo...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.5.429
更新日期:1998-05-01 00:00:00
abstract::A review of the data supports the suggestion of Knox (1974) that the sex ratio and incidence of anencephalics vary together within populations, as they are known to do between populations. There seems some doubts, though, whether Knox was correct in hypothesising that the sex ratio of anencephalics varies with their i...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.2.129
更新日期:1979-04-01 00:00:00
abstract::We describe a child with typical features of the 3-M syndrome who presented with acute hydrocephalus owing to haemorrhage from one of two intracranial cerebral vascular aneurysms. We suggest that other children with this disorder should be screened for similar complications. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.6.425
更新日期:1992-06-01 00:00:00
abstract::Chromosome and enzyme determinations were performed in 250 pregnancies between the 7th and the 12th week of gestation. The majority of the tests were performed for risk of chromosomal abnormalities and 75% of the women were 35 years old or more. We describe a chorionic villi sampling (CVS) technique which proved to be...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.22.2.92
更新日期:1985-04-01 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::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:Non-syndromic isolated cleft lip with or without cleft palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors. It has been reported that maternal nutritional factors are likely to play a major role in development o...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.070029
更新日期:2010-12-01 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 Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. However, patients with this phenotype have been reported with a new dominant mutation at the FGFR2 locus as well as in the offspring of mothers taking the antifungal agent fluconazole during early pregnancy. In addition to the cra...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.37.1.26
更新日期:2000-01-01 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:PURPOSE:Adoptees are a population that could benefit from genetic testing to fill gaps in family health history (FHH). Elective genomic testing (EGT) provides adoptees with clinical genetic testing options to learn about genetic health risks in the absence of FHH. We assessed adoptees' interests in, motivations for and...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2020-107503
更新日期:2020-12-21 00:00:00
abstract::A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,X...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.2.148
更新日期:1978-04-01 00:00:00
abstract::True isochromosomes for Xp probably do not exist in a liveborn. We describe a rare case of complete Xp duplication and retention of the inactivation centre at Xq13. Cytogenetically, it is described as a nonmosaic 46,X,psu idic(X)(q13). Complete duplication of Xpter-->Xq13 was confirmed by banded analysis and FISH prob...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.3.237
更新日期:1996-03-01 00:00:00
abstract::Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has recently been identified. We have developed a rapid diagnostic solid phase minisequencing test to detect the major 1.02 kb deletion which is responsible for 81% of...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.12.1041
更新日期:1996-12-01 00:00:00
abstract::The frequency of chromosome aberrations in the lymphocytes of three established heterozygotes for the Bloom's syndrome gene (ages 67, 57, 46) was compared to that in controls (ages 68, 67, 61, 46, 34). The main part of the study was done on coded slides. No difference was found between the heterozygotes and the contro...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.3.219
更新日期:1979-06-01 00:00:00