Abstract:
:We describe the clinical and cytogenetic findings of two patients with deletions of the long arm of chromosome 2. One has an interstitial deletion identical to that found in a previously reported patient, although they are phenotypically dissimilar. The other patient has a terminal deletion, the first such deletion reported to date.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Young RS,Shapiro SD,Hansen KL,Hine LK,Rainosek DE,Guerra FAdoi
10.1136/jmg.20.3.199subject
Has Abstractpub_date
1983-06-01 00:00:00pages
199-202issue
3eissn
0022-2593issn
1468-6244journal_volume
20pub_type
杂志文章abstract::The phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes was investigated in three populations in the Sudan and one population in Nilgiris, India. No significant consistent association of red cell acid phosphatase phenotypes was observed with these po...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.18.4.271
更新日期:1981-08-01 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:BACKGROUND/AIMS:The development of colorectal cancer and a variable range of extracolonic manifestations in familial adenomatous polyposis (FAP) is the result of the dominant inheritance of adenomatous polyposis coli (APC) gene mutations. In this study, direct mutation analysis of the APC gene was performed to determin...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::This report concerns two families in which the index patients are sporadic cases of a benign form of muscular dystrophy. In both families the sisters of the patients have married a close relative. The respective risks for a child of these consanguineous marriages being affected with either X linked Becker muscular dys...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.5.299
更新日期:1989-05-01 00:00:00
abstract::A total of 592 cells was examined from 38 normal humans who had either small or very large Y chromosomes. Chromosome identification was based on the QFQ technique. The distance between the X and Y chromosome was measured from centromere to centromere. The spatial distance between X and Y was significantly smaller when...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.20.6.450
更新日期:1983-12-01 00:00:00
abstract::In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected child with that of the af...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.1.23
更新日期:1998-01-01 00:00:00
abstract::We describe a case of pycnodysostosis with porencephaly and suggest an explanation for the porencephaly by a mechanism of imbalance between brain growth and its vascular supply and a normal but unopposed cerebrospinal fluid pressure. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.12.782
更新日期:1989-12-01 00:00:00
abstract::Ten useful two allele restriction fragment length polymorphisms of the low density lipoprotein receptor gene were used for haplotype analysis in 45 unrelated familial hypercholesterolaemic (FH) patients, 60 normal controls, and 32 FH homozygotes, all of whom were white Afrikaners. Pedigree analysis in 27 informative h...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.4.255
更新日期:1989-04-01 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:BACKGROUND:Hyperparathyroidism is a common endocrinopathy characterised by the formation of parathyroid tumours. In this study, we determine the role of the recently identified gene, HRPT2, in parathyroid tumorigenesis. METHODS:Mutation analysis of HRPT2 was undertaken in 60 parathyroid tumours: five HPT-JT, three FIH...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.40.9.657
更新日期:2003-09-01 00:00:00
abstract::A mild, non-transfusion dependent, beta thalassaemia phenotype is described in a Dutch patient homozygous for a mutation in the cleavage-polyadenylation sequence of the beta globin gene. The molecular basis of the mutation, AATAAA greater than AATGAA, was determined using denaturing gradient gel electrophoresis (DGGE)...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.4.252
更新日期:1991-04-01 00:00:00
abstract::This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitia...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.047860
更新日期:2007-04-01 00:00:00
abstract::An interstitial deletion of the region q22.1-->q22.3 of chromosome 14 is described in a child with bilateral anophthalmia, dysmorphic features including micrognathia, small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism. Interstitial delet...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.30.3.251
更新日期:1993-03-01 00:00:00
abstract::An infant with congenital chondrodysplasia punctata with a secondary deformation of umbilical cord hernia is reported. The paper discusses deformation syndromes as anomalies due to unusual mechanical or intrinsic factors. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.1.84
更新日期:1986-02-01 00:00:00
abstract::A 4 year old boy is reported with tyrosinase positive hypopigmentation, mental retardation, ataxia, and myopia. Radiological investigation showed occipital cerebral atrophy, coxa valga, and generalised osteoporosis. The skin histology and electron microscopy are reported and discussed. The clinical features are simila...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.2.118
更新日期:1987-02-01 00:00:00
abstract::In this paper the costs and benefits associated with DNA diagnosis of subjects who are at risk of having a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a mathematical model. Four monogenic diseases have been considered...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.9.741
更新日期:1997-09-01 00:00:00
abstract:BACKGROUND:Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. OBJECTIVES:To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-105172
更新日期:2018-06-01 00:00:00
abstract:BACKGROUND:Familial haemophagocytic lymphohistiocytosis (FHL) has an autosomal recessive mode of inheritance and consists of at least three subtypes. FHL2 subtype with perforin (PRF1) mutation accounts for 30% of all FHL cases, while FHL with MUNC13-4 mutation was recently identified and designated as FHL3 subtype. OB...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.021121
更新日期:2004-10-01 00:00:00
abstract::Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocrine neoplasms have occasionally been reported, as have gastric polyps, which are usually hamartomatous in the fundus of the stomach and adenomatous in the antrum. A 57 year old man with colorectal, gastric, and periampullar...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::The observation of Campbell and Price in 1979 that their Unit had diagnosed four subjects with both Klinefelter's syndrome and congenital hypothyroidism raised the suspicion of an association between the two conditions. This, and the published reports of an XX male, five XXY males, and one mosaic XY/XXY with congenita...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.4.247
更新日期:1988-04-01 00:00:00
abstract:BACKGROUND:Members of two seemingly unrelated kindreds of Arab Moslem origin presented with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. METHODS:The authors performed neurological and developmental examinations on the ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-100742
更新日期:2012-07-01 00:00:00
abstract::We report concordant male monozygotic twins with congenital short femur (proximal focal femoral deficiency) and discuss the aetiological implications. Coincidentally, they and their father have benign familial macrocephaly. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.4.363
更新日期:1986-08-01 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::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::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 cohort of 33 people at risk for Huntington's disease (HD), applying for genetic testing, were tested with a battery of neuropsychological tests covering attentional, visuospatial, learning, memory, and planning functions. A psychiatric rating scale, SCL-90R, was also applied, mainly as a control, since cognitive dys...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.8.600
更新日期:1995-08-01 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::The cap capacity in nine Duchenne muscular dystrophy (DMD) patients and in 23 healthy male subjects (14 adults and nine neonates) has been investigated by inducing capping of HLA molecules. The evaluation of capping percentages ranged in healthy controls from 44 to 61 with a mean value of 53.39 +/- 4.89, while DMD pat...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.3.182
更新日期:1984-06-01 00:00:00
abstract:BACKGROUND:Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of non-chromosomal HPE. The severity spectrum is wide, ranging from incompatibility ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101008
更新日期:2012-07-01 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