Abstract:
:A sequential silver-Giemsa (SG) procedure is presented, initially to stain the p11 and q11 euchromatic bands and subsequently the q12 heterochromatic band of the human Y chromosomes. A three sub-band division of the q11 band can be identified. The same technique differentially stains the secondary constriction of chromosome 9 as well as most other satellite III DNA regions of the human karyotype.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Goyanes VJdoi
10.1136/jmg.17.6.468subject
Has Abstractpub_date
1980-12-01 00:00:00pages
468-71issue
6eissn
0022-2593issn
1468-6244journal_volume
17pub_type
杂志文章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::Despite increased expenditure, productivity of the pharmaceutical industry has decreased and currently 90% of developed molecules entering phase II and phase III clinical trials fail to gain regulatory approval. Most of these failures are due to lack of therapeutic efficacy rather than lack of safety, suggesting that ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2014-102438
更新日期:2015-02-01 00:00:00
abstract::The search for the genes responsible for many complex genetic diseases is well under way and has already been successful in some cases. The study of cancer as a complex genetic disease has lagged behind other conditions, largely because of particular problems that are associated with malignant disease. Cancer also, ho...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.37.3.161
更新日期:2000-03-01 00:00:00
abstract:BACKGROUND:A marker chromosome is defined as a structurally abnormal chromosome that cannot be identified by routine cytogenetics. The risk for phenotypic abnormalities associated with a marker chromosome depends on several factors, including inheritance, mode of ascertainment, chromosomal origin, and the morphology, c...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2005.037887
更新日期:2006-08-01 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::An estimated 15-50% of the population experiences pain at any given time, at great personal and societal cost. Pain is the most common reason patients seek medical attention, and there is a high degree of individual variability in reporting the incidence and severity of symptoms. Research suggests that pain sensitivit...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2011-100386
更新日期:2012-01-01 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::A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuc...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.2.131
更新日期:1976-04-01 00:00:00
abstract:BACKGROUND:The cohesin complex plays an essential role in genome organisation and cell division. A full complement of the cohesin complex and its regulators is important for normal development, since heterozygous mutations in genes encoding these components can be sufficient to produce a disease phenotype. The implicat...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2020-107095
更新日期:2020-09-11 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::The features of a child with osteogenesis imperfecta type III (OI III) resulting from the heterozygous substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen were studied. He was born at term with the clinical features of severe OI, including deep grey-blue sclerae. He had severe ost...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.3.193
更新日期:1996-03-01 00:00:00
abstract::The beta thalassaemia alleles in 50 beta thalassaemia heterozygotes originating from many parts of the United Arab Emirates (UAE) have been characterised using the allele specific priming technique of the polymerase chain reaction (PCR). The IVSI-5 (G-->C) mutation was found to be present in 66%, while six other allel...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.1.59
更新日期:1994-01-01 00:00:00
abstract:BACKGROUND:Azoospermia is the absence of a measurable level of spermatozoa in the semen. It affects approximately 1% of all men, and the genetic basis of the majority of idiopathic cases is unknown. We investigated two unrelated consanguineous families with idiopathic azoospermia. In family 1, there were three azoosper...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-102102
更新日期:2014-04-01 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::Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and the loci DXS143 (dic56; Zmax = 15.90 at theta = 0.0, confidence interval (CI) 0-0.035), DXS85 (782; Zmax = 15.67 at theta ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.8.552
更新日期:1992-08-01 00:00:00
abstract:BACKGROUND:We report here the genetic characterisation of a large five generation Chinese family with the phenotypic features of auditory neuropathy and progressive peripheral sensory neuropathy, and the genetic feature of X linked recessive inheritance. Disease onset was at adolescence (at an average age of 13 years f...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2005.037929
更新日期:2006-07-01 00:00:00
abstract::We report a family with type 2 neurofibromatosis and late onset tumours. Five members of this family have developed hearing loss late in life, two of whom have only been shown to have the diagnosis in their seventies, and three other obligate gene carriers died undiagnosed at 64, 72, and 78 years of age. A missense mu...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.6.470
更新日期:1995-06-01 00:00:00
abstract:BACKGROUND:Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan-Diamond syndrome due to haploinsufficiency of the RPS19 gene. Such a paucity of patients might be due to the difficulty in detecting a small rearrangement on this chromosome that lacks...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2008.062034
更新日期:2009-09-01 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::G band cytogenetic analysis often leads to the discovery of unbalanced karyotypes that require further characterisation by molecular cytogenetic studies. In particular, G band analysis usually does not show the chromosomal origin of small marker chromosomes or of a small amount of extra material detected on otherwise ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-07-01 00:00:00
abstract::A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.8.716
更新日期:1996-08-01 00:00:00
abstract:BACKGROUND:X-linked ichthyosis (XLI) (steroid sulfatase deficiency) is caused by deletions or point mutations of the steroid sulfatase (STS) gene on chromosome Xp22.32. Deletions of this region can be associated with cognitive behavioural difficulties including autism. Animal work suggests the STS gene may be involved ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2008.057729
更新日期:2008-08-01 00:00:00
abstract::A family with an insertional type of chromosome rearrangement involving chromosomes 7 and 13 is reported. An interstitial deletion of a segment of chromosome 7 (7q32 leads to 34) had been inserted into the long arm of chromosome 13 at breakpoint q32. Segregation of this chromosome rearrangement gave rise to three subj...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.6.461
更新日期:1979-12-01 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::Costovertebral dysplasia comprises multiple malformations of the vertebrae and ribs, with a characteristic clinical picture of short trunk dwarfism, short neck, scoliosis, and rib cage deformity. We describe two sibs with the syndrome who are presumed to represent the autosomal recessive form of the disorder. One sib ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.20.6.441
更新日期:1983-12-01 00:00:00
abstract:BACKGROUND:The most commonly reported phenotypes described in patients with PTEN mutations are Bannayan-Riley-Ruvalcaba syndrome (BRRS), with childhood onset, macrocephaly, lipomas and developmental delay, and Cowden Syndrome (CS), an adult-onset condition recognised by mucocutaneous signs, with a risk of cancers, in p...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.049981
更新日期:2007-09-01 00:00:00
abstract::We report on a sex reversed Japanese child with a 46,X,Yp+ karyotype, minor dysmorphic features, and no testicular development. The Yp+ chromosome was derived by translocation of an Xp fragment (Xp21-Xp22.3) to Yp11.3. This has resulted in deletion of distal part of the Y chromosome pseudoautosomal region (DXYS15-telo...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.4.226
更新日期:1992-04-01 00:00:00
abstract::The occurrence in a family of an isolated case of an autosomal dominant disorder with reduced penetrance presents a difficult problem in genetic counselling. It is shown that in such a situation the risk of recurrence in subsequent offspring is given by: (formula; see text) where P is the penetrance (0 less than P les...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.4.316
更新日期:1986-08-01 00:00:00
abstract::Adult polycystic kidney disease (APKD) is a common genetic disorder that is inherited as an autosomal dominant trait. Recent reports show that, in some families, the APKD gene shows close genetic linkage to two chromosome 16 specific genetic markers. We have been conducting a genetic linkage study using 29 polymorphic...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.8.457
更新日期:1987-08-01 00:00:00
abstract::We report two sibs with features overlapping those of orofaciodigital syndrome type VI (Varadi syndrome). Both presented at birth with oculomotor abnormalities, dysmorphic facial features, and dysgenesis of the cerebellar vermis. There were minimal oral manifestations (high arched palate) in both of them and one had p...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00