Abstract:
:Linkage analysis of neurofibromatosis was performed using genes on chromosomes 1, 8, 11, and 12. No linkage was found between NF and C-myc, AT 3, IGF-1, PTH, and gamma globin genes. Evidence for linkage was found between C-ets 1, on the long arm of chromosome 11 and NF in two families with a lod score of 1.88 at theta = 0. More families are being studied to confirm this linkage.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Kittur S,Lubs ML,Bauer M,Chakravarti A,Kazazian Hdoi
10.1136/jmg.24.9.526subject
Has Abstractpub_date
1987-09-01 00:00:00pages
526-7issue
9eissn
0022-2593issn
1468-6244journal_volume
24pub_type
杂志文章abstract::A child with the Tel Hashomer camptodactyly syndrome is reported. Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. We report a raised creatine kinase and an abnormal electromyogram and muscle biopsy in this syn...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.3.268
更新日期:1986-06-01 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:Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.043059
更新日期:2007-01-01 00:00:00
abstract::A child was brought to us with multiple anomalies. On examination we found an interstitial deletion in the long arms of chromosome 1. We studied genetic and chromosome markers, comparing our clinical and cytogenetic findings with other reported cases of chromosome 1 interstitial deletion. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.6.483
更新日期:1980-12-01 00:00:00
abstract::We report three new mutations in the gene for aldolase B that are associated with hereditary fructose intolerance (HFI). Two nonsense mutations create opal termination codons: R3op (C-->T, Arg3-->ter, exon 2) was found in homozygous form in four affected members of a large consanguineous Turkish pedigree and R59op (C-...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.6.499
更新日期:1994-06-01 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:The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). However, the prevalence of ASD in WBS is 6-10 times higher than in the general population. We hav...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106080
更新日期:2019-12-01 00:00:00
abstract::A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot w...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.12.752
更新日期:1990-12-01 00:00:00
abstract::We present a stillborn male infant with premaxillary agenesis, bilateral microphthalmos, alobar holoprosencephaly, hydrocephalus, ventricular and atrial septal defects, small penis, bilateral cryptorchidism, and bilateral upper limb postaxial polydactyly. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.11.714
更新日期:1987-11-01 00:00:00
abstract:BACKGROUND:Junctional epidermolysis bullosa (JEB), a group of hereditary skin fragility disorders, is associated with a wide variety of phenotypes, although all forms are characterised by trauma induced skin blistering and tissue separation at the dermal-epidermal junction zone. A subgroup, coined JEB-other, is associa...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.086751
更新日期:2011-07-01 00:00:00
abstract::Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.10.843
更新日期:1993-10-01 00:00:00
abstract::A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which may be underdiagnosed. The important signs of this syndrome include a droopy, jowly face with a degree of malar hypoplasia and mandibular prognathism, lax, but non-hyperelastic skin, most m...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.12.854
更新日期:1988-12-01 00:00:00
abstract::X chromosome inactivation is widely studied using DNA sequence polymorphisms and DNA methylation as a surrogate measure of inactivation, but the correlation of methylation with inactivation is not perfect. Thus, it may be better to study sequence polymorphisms expressed in the mRNA. A recent paper reported use of a si...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.12.1028
更新日期:1997-12-01 00:00:00
abstract::The evidence that genetic and immunogenetic influences operate in the causation of pre-eclampsia/eclampsia (gestosis) is reviewed. The problems of definitive diagnosis are discussed along with the possibility of a multifactorial aetiology. The difficulties of differentiating trigger and effector mechanisms are also co...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.3.200
更新日期:1976-06-01 00:00:00
abstract::Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.28.12.884
更新日期:1991-12-01 00:00:00
abstract:BACKGROUND:The lethal short rib polydactyly syndromes (SRP type I-IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenes...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2011-100717
更新日期:2012-04-01 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::A family study of 32 patients with torsion dystonia has shown at least two forms of generalized dystonia with onset in childhood. These two forms, an autosomal dominant and an autosomal recessive, are clinically indistinguishable. There were at least three families and probably about six to eight patients with the aut...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.12.1.12
更新日期:1975-03-01 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::Sex linked recessive deafness is a rare cause of male genetic deafness, estimated to account for 6.2% of male genetic deafness in 1966. A male excess was found in the deaf population of Ireland in 1851. Reevaluation of this survey of 1851 confirms sex linked deafness as a factor in the disproportionate number of deaf ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.6.376
更新日期:1990-06-01 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::Respiratory chain complex I deficiency represents a genetically heterogeneous group of diseases resulting from mutations in mitochondrial or nuclear genes. Mutations have been reported in 13 of the 14 subunits encoding the core of complex I (seven mitochondrial and six nuclear genes) and these result in Leigh or Leigh...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2003.014316
更新日期:2004-01-01 00:00:00
abstract::A method is described to investigate the inheritance of disease predisposition in cancer families. It is an extension of classic genetic linkage analysis, which enables information on loss of constitutional heterozygosity (LOCH) to be incorporated into the model. This adapted model treats LOCH data as additional obser...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.31.6.448
更新日期:1994-06-01 00:00:00
abstract:BACKGROUND:Intellectual disability (ID) is one of the most common forms of disability worldwide, displaying a wide range of aetiologies and affecting nearly 2% of the global population. OBJECTIVE:To describe a novel autosomal recessive form of ID with strabismus and its underlying aetiology. MATERIALS AND METHODS:Aut...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101378
更新日期:2013-07-01 00:00:00
abstract::The mean paternal age at birth of 80 presumed mutant cases of dominant osteogenesis imperfecta (OI) was significantly higher than that of population controls and remained so after adjusting for maternal age. There was also an increase in mean maternal age (not significant) which disappeared after adjusting for paterna...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.3.227
更新日期:1986-06-01 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::Patients affected with progressive myoclonus epilepsy of the Lafora type present during late adolescence with a characteristic EEG pattern and Lafora bodies seen on skin biopsy. The critical region for the Lafora gene has been localised to chromosome 6q24 flanked by the dinucleotide repeat markers D6S292 and D6S420. T...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.7.590
更新日期:1997-07-01 00:00:00
abstract:BACKGROUND:The non-POU domain containing octamer-binding gene (NONO) is located on chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Loss-of-function variants in NONO have...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-104039
更新日期:2017-01-01 00:00:00
abstract::In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short phi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.3.165
更新日期:1990-03-01 00:00:00
abstract::A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.18.6.473
更新日期:1981-12-01 00:00:00