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 marked over the extremities, and osteoporosis which may be associated with fractures and vertebral collapse.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Hunter AGdoi
10.1136/jmg.25.12.854subject
Has Abstractpub_date
1988-12-01 00:00:00pages
854-7issue
12eissn
0022-2593issn
1468-6244journal_volume
25pub_type
杂志文章abstract::The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.3.148
更新日期:1987-03-01 00:00:00
abstract::Desbuquois dysplasia is a rare autosomal recessive chondrodysplasia characterised by short stature, joint laxity, facial dysmorphism, a "Swedish key" appearance of the proximal femur, advanced carpal and tarsal bone age, and hand anomalies consisting of phalangeal dislocations and an extra ossification centre distal t...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.40.4.282
更新日期:2003-04-01 00:00:00
abstract:BACKGROUND:Inherited abnormalities of complement are found in ∼60% of patients with atypical haemolytic uraemic syndrome (aHUS). Such abnormalities are not fully penetrant. In this study, we have estimated the penetrance of the disease in three families with a CFH mutation (c.3643C>G; p. Arg1215Gly) in whom a common li...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102498
更新日期:2014-11-01 00:00:00
abstract::Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullos...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.6.381
更新日期:1992-06-01 00:00:00
abstract::Three patients with accessory small ring chromosomes derived from chromosome 1 are presented together with additional clinical details and cytogenetic analyses of a previously reported patient. Cytogenetic analysis was undertaken by FISH using a reverse painting probe generated from one of the patients by microdissect...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-11-01 00:00:00
abstract::Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resemblin...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.5.414
更新日期:1997-05-01 00:00:00
abstract::X linked spondyloepiphyseal dysplasia (SED) is caused by a growth defect of the vertebral bodies leading to characteristic changes in the vertebral bodies and a short trunk. The gene responsible for this disorder has previously been mapped to Xp22, with a maximum likelihood location between markers DXS16 and DXS92. We...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.5.432
更新日期:1996-05-01 00:00:00
abstract::Results of genealogical, DNA, and clinical findings in 41 families with 235 patients affected with myotonic dystrophy (DM) led to the following observations. (1) The relative proportion of affected patients among blacks is apparently lower than among whites or orientals. (2) A significant excess of males was observed....
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.1.14
更新日期:1995-01-01 00:00:00
abstract::A new dicentric X isochromosome i(X)(pter to q2102 to pter) of similar size to a normal X is described in a girl with gonadal dysgenesis. In this non-mosaic case with an X short arm duplication, most of the stigmata associated with Turner's syndrome were absent. This structure was compared with that of six i(Xq) and t...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.4.278
更新日期:1979-08-01 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::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...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.38.7.430
更新日期:2001-07-01 00:00:00
abstract:BACKGROUND:Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, with a worldwide prevalence of 1 in 4000 persons. While in most cases of RP, the disease is limited to the eye (non-syndromic), over 40 forms of syndromic RP have been described. OBJECTIVES:To identify the genetic basis for sy...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-104632
更新日期:2017-09-18 00:00:00
abstract::MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been reported. All patients have typical dysmorphic features in association with severe intellectual disability, and nearly all have microcephaly and seizures. Congenital anomalies, including Hirsc...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
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更新日期:2003-05-01 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::Adrenal hypoplasia congenita (AHC) can occur due to deletions or mutations in the DAX 1 (NR0B1) gene on the X chromosome (OMIM 300200). This form of AHC is therefore predominantly seen in boys. Deletion of the DAX 1 gene can also be part of a larger contiguous deletion including the centromeric dystrophin and glycerol...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.055129
更新日期:2008-09-01 00:00:00
abstract::A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia interm...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.19.6.437
更新日期:1982-12-01 00:00:00
abstract::Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic fluid cells and analysis of alpha-fetoprotein in the amniotic fluid supernatant. The pregnancy was interrupted in 36 case...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.3.182
更新日期:1976-06-01 00:00:00
abstract:BACKGROUND:Primary pulmonary hypertension (PPH), resulting from occlusion of small pulmonary arteries, is a devastating condition. Mutations of the bone morphogenetic protein receptor type II gene (BMPR2), a component of the transforming growth factor beta (TGF-beta) family which plays a key role in cell growth, have r...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.37.10.741
更新日期:2000-10-01 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: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::We report an 18 year old female with a de novo ring chromosome 3 found after investigation for short stature. Her karyotype was interpreted as 46,XX, r(3)(p26.2q29). Her phenotype is milder than previously reported cases and illustrates the mild end of the spectrum of the ring chromosome 3 phenotype. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.8.536
更新日期:1991-08-01 00:00:00
abstract:INTRODUCTION:Lynch syndrome is known to cause an increased risk of malignancies, including bowel and endometrial cancers. However, the risk of breast cancer associated with mutations in the mismatch repair (MMR) genes that cause Lynch syndrome is still unclear. MATERIALS AND METHODS:This study assesses the cumulative ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2015-103216
更新日期:2015-08-01 00:00:00
abstract::The features of a baby with lethal perinatal osteogenesis imperfecta (OI-II), resulting from the substitution of tryptophan 94 by cysteine in the carboxyl-terminal propeptide of pro alpha 1 (I) chains of type I procollagen, were studied. The limbs and torso were of normal length, shape, and proportion. Similarly, all ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.11.965
更新日期:1996-11-01 00:00:00
abstract::X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assign...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.5.330
更新日期:1991-05-01 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::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::Mucopolysaccharidosis Type I (Hurler's syndrome) was diagnosed in an 18 week old fetus of a woman with 1 affected child by direct assay of glycosaminoglycans in amniotic fluid. Subsequently the fetus was aborted by hysterotomy and diagnosis was confirmed by analyzing glycosaminoglycans in fetal liver, electron microg...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.10.2.144
更新日期:1973-06-01 00:00:00
abstract::Disease associated balanced chromosomal rearrangements (DBCRs), which truncate, delete, or otherwise inactivate specific genes, have been instrumental for positional cloning of many disease genes. A network of cytogenetic laboratories, Mendelian Cytogenetics Network (MCN), has been established to facilitate the identi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.37.11.858
更新日期:2000-11-01 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:BACKGROUND:Ubiquitination has a central role in numerous biological processes, including cell development, stress responses and ageing. Perturbed ubiquitination has been implicated in human diseases ranging from cancer to neurodegenerative diseases. SIAH1 encodes a RING-type E3 ubiquitin ligase involved in protein ubiq...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106335
更新日期:2020-05-19 00:00:00