Abstract:
:A child with ambiguous genitalia, brought up phenotypically male, had a 46,XX/46,XY karyotype. At laparotomy, he had a left sided ovary and uterus, and a right sided scrotal testis. The 46,XX line made up 50% of cells in the blood and 90% of cells in a skin biopsy. There were no cytogenetic polymorphisms. Analysis of lymphocyte DNA with seven polymorphic DNA markers showed him to be chimaeric, with four, three, and two parental alleles at different loci. He had one paternal and one maternal X chromosome at the marker DXS1053. Based on our data, we would suggest that chimaerism arose as a result of postzygotic fusion of two embryos. We have shown by DNA polymorphisms the presence of autosomal chimaerism in a case of sex chromosome chimaerism, and indicated the usefulness of DNA polymorphisms in determining the origin of chimaerism.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Green AJ,Barton DE,Jenks P,Pearson J,Yates JRdoi
10.1136/jmg.31.10.816subject
Has Abstractpub_date
1994-10-01 00:00:00pages
816-7issue
10eissn
0022-2593issn
1468-6244journal_volume
31pub_type
杂志文章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:BACKGROUND:Primary ovarian insufficiency (POI) affects 1% of women under 40 years and is a public health problem. The genetic causes of POI are highly heterogeneous with isolated or syndromic forms. Recently, variants in genes involved in DNA repair have been shown to cause POI. Notably, syndromic POI with Fanconi anae...
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更新日期:2020-06-01 00:00:00
abstract::Hereditary multiple exostoses (HME) is a genetically heterogeneous autosomal dominant disorder characterised by the development of bony protuberances mainly located on the long bones. Three HME loci have been mapped to chromosomes 8q24 (EXT1), 11p11-13 (EXT2), and 19p (EXT3). The EXT1 and EXT2 genes encode glycosyltra...
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doi:10.1136/jmg.38.7.430
更新日期:2001-07-01 00:00:00
abstract:BACKGROUND:Gene-targeting studies in mice have revealed a key role for EVI1 protein in the maintenance of haematopoiesis, and argue in favour of a gene dosage requirement for EVI1 in the regulation of haematopoietic stem cells. Furthermore, a fusion transcript of MDS1 and EVI1 has been shown to play a critical role in ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-100990
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:Clubfoot is a common congenital birth defect with complex inheritance patterns. Currently, the genetic and morphological basis of clubfoot is poorly understood. To identify genetic risk factors associated with clubfoot, we performed a genome-wide association study of common genetic variants. METHODS:The DNA...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102303
更新日期:2014-05-01 00:00:00
abstract::Complete ascertainment of adult onset limb-girdle muscular dystrophy in the Lothian Region of Scotland was attempted. Ten index cases were identified giving a prevalence of 1.3 per 100 000 (0.9 per 100 000 for cases where the diagnosis of muscular dystrophy was supported by both electromyographic and muscle biopsy fin...
journal_title:Journal of medical genetics
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doi:10.1136/jmg.22.4.250
更新日期:1985-08-01 00:00:00
abstract::A total of 102 families with Duchenne muscular dystrophy has been studied with linked DNA polymorphisms as an aid to estimating carrier risks for female relatives. Early work using probes RC8, L1.28, and pXUT23 gave very little clinically useful information because of the high recombination rates between these probes ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.6.581
更新日期:1986-12-01 00:00:00
abstract::We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the pati...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmg.34.10.798
更新日期:1997-10-01 00:00:00
abstract::Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by tumour-like malformations (hamartomas) of the brain, skin, and other organs, often associated with seizures and learning disability. There is genetic heterogeneity with loci for TSC on chromosomes 9q34 (TSC1) and 16p13.3 (TSC2). The recently c...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.12.969
更新日期:1998-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.22.1.46
更新日期:1985-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.2.101
更新日期:1978-04-01 00:00:00
abstract::A family is described in which 16 individuals in 3 generations have Charcot-Marie-Tooth disease. At least 6 family members also have the naevoid basal cell carcinoma syndrome. In addition, 1 subject with both disorders has 2 young daughters with the naevoid basal cell carcinoma syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.4.288
更新日期:1978-08-01 00:00:00
abstract::A two generation family with neurofibromatosis type 2 (NF2) is presented in which a family member requested presymptomatic molecular diagnosis. Since the consultand's mother had clinically well defined NF2, he was quoted to be at 50% risk of carrying an NF2 mutation. Mutation screening in the mother did not show the c...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.11.934
更新日期:1997-11-01 00:00:00
abstract:BACKGROUND:Anticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with prenatal anticonvulsant exposure further, we undertook a clinical study of 57 children with fetal anticonvulsant syndrome...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.37.7.489
更新日期:2000-07-01 00:00:00
abstract::A variant chromosome 4 with a large G positive heterochromatic block is described and discussed in relation to chromosome 4 heteromorphisms observed with other banding techniques. The extra heterochromatin is C positive and fluoresces brilliantly with Q banding, but differs from Yqh with some methods of staining. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.6.470
更新日期:1984-12-01 00:00:00
abstract:BACKGROUND:Infertility affects approximately 15% of couples worldwide with male infertility being responsible for approximately 50% of cases. Although accumulating evidence demonstrates the critical role of the X chromosome in spermatogenesis during the last few decades, the expression patterns and potential impact of ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106598
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:Multiple morphological abnormalities of the sperm flagella (MMAF) is a kind of severe teratozoospermia. Patients with the MMAF phenotype are infertile and present aberrant spermatozoa with absent, short, coiled, bent and/or irregular flagella. Mutations in several genes can explain approximately 30%-50% of M...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2018-105952
更新日期:2019-10-01 00:00:00
abstract::We have performed an extensive analysis of TP53 in 474 French families suggestive of Li-Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret criteria. We identified a germline alteration of TP53 in 82 families (17%), in 67/232 of the families fulfilling the Chompret criteria (29%) and in 15/242 whic...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2008.057570
更新日期:2008-08-01 00:00:00
abstract:BACKGROUND:Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD). DESIGN:1415 blood spots from patients referred to a metabolic clinic for LSD were screened using a single multiplex assay for 14 proteins in a dried blood spot. RESULTS:Al...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.088096
更新日期:2011-06-01 00:00:00
abstract:BACKGROUND:Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control th...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-103956
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.044719
更新日期:2007-04-01 00:00:00
abstract:BACKGROUND:Distal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that has been identified in patients from the Jerash region of Jordan. Our...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106108
更新日期:2020-03-01 00:00:00
abstract::We report three sisters and their father with a reciprocal balanced translocation, rcp t(8;11)(q24.3;p15.1) and the same abnormal phenotypes, including mental retardation, growth disturbance, and amblyopia. It is considered that the abnormal phenotypes in our four cases might result from a tiny deletion or gene mutati...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.10.642
更新日期:1989-10-01 00:00:00
abstract:BACKGROUND:Following predictive testing for Huntington disease (HD), knowledge of one's carrier status may have consequences on disease onset. Our study aimed to address two questions. First, does knowledge of being a carrier of the pathological HD mutation trigger onset of the disease? Second, does this knowledge infl...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-104199
更新日期:2017-08-01 00:00:00
abstract:BACKGROUND:Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC). OBJECTIVE:The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1 disease-causing mutation, TSC2 disease-causing mutation, or no mutation identified (NM...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2008.065342
更新日期:2009-07-01 00:00:00
abstract::A majority of cystic fibrosis (CF) genes (70 to 75%) share a single mutation, but the remaining 25 to 30% of defects are accounted for by more than 20 different mutations. One of the less frequent mutations, G551D, has been identified in the CF genes of two sibs and one unrelated adult patient. The adult patient also ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.1.34
更新日期:1991-01-01 00:00:00
abstract::A 5-month-old infant was examined because of minor multiple malformations. He was found to have a de novo blanced reciprocal translocation 46,XY,t(6;8(q13;q22). On follow-up at the age of 17 months his mental development was found to be within normal limits. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.14.2.142
更新日期:1977-04-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the f...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmg.2006.044388
更新日期:2007-02-01 00:00:00
abstract::An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half sisters whose mother also had ocular colobomata. All the patients had normal karyotypes. There was a high incidence of other associated abnormalities involving the central nervous, skeletal,...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.12.3.289
更新日期:1975-09-01 00:00:00
abstract::A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.4.293
更新日期:1995-04-01 00:00:00