Abstract:
:Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene in Currarino syndrome allowing identification of asymptomatic heterozygotes. In this review, we have performed an analysis of medical publications, and our own additional cases, to identify the range of malformations and complications that occur. We have also estimated risks of malformation in heterozygotes by using Weinburg's proband method on families personally known to us in order to provide accurate genetic counselling information.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Lynch SA,Wang Y,Strachan T,Burn J,Lindsay Sdoi
10.1136/jmg.37.8.561keywords:
subject
Has Abstractpub_date
2000-08-01 00:00:00pages
561-6issue
8eissn
0022-2593issn
1468-6244journal_volume
37pub_type
杂志文章,评审abstract:BACKGROUND:Birt-Hogg-Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as responsible germline FLCN mutations are diverse. OBJECTIVES:BHDS may be caused by...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.070565
更新日期:2010-04-01 00:00:00
abstract::A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a C to T substitution at nucleotide 677, is responsible for reduced MTHFR activity and associated with modestly increased plasma homocysteine concentrations. Since underlying maternal vascular disease increases the risk of pre-eclampsi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.6.525
更新日期:1997-06-01 00:00:00
abstract::A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.14.6.445
更新日期:1977-12-01 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::A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and NADP, and a normal pH optimum, together with a marked increase in utilisation of the substrate ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.3.191
更新日期:1980-06-01 00:00:00
abstract::A panel of five multiallelic and highly informative dinucleotide CA repeat markers flanking the APC gene was used for presymptomatic diagnosis of familial adenomatous polyposis coli (FAP). Marker regions were amplified by PCR. DNA fragments were separated by electrophoresis in denaturing polyacrylamide gels and visual...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.6.442
更新日期:1994-06-01 00:00:00
abstract::Two patients with partial monosomy of the short arm of chromosome 8 are described. Their clinical features were very similar. Comparison with previously reported patients confirms the existence of an 8p- syndrome. The importance of cytogenetic investigations in all infants with major congenital heart defect and facial...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.2.153
更新日期:1986-04-01 00:00:00
abstract::Evidence is presented to support the recent suggestion that human neural tube closure is similar to that observed in mice, and comprises several regionally distinct closure sites rather than being a simple zipping up process. Seven subjects, each with more than one neural tube defect (NTD), are described. Comparative ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.3.205
更新日期:1995-03-01 00:00:00
abstract::Recent epidemiological interest has focused on separation of neural tube defects (NTD) into subgroups which may differ pathogenetically and aetiologically, for example, 'upper' and 'lower' spina bifida. In order to validate the use of pathologists' lesion descriptions by epidemiologists and others, a postal survey of ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.11.942
更新日期:1993-11-01 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::Four different Waardenburg syndromes have been defined based upon observed phenotypes. These syndromes are responsible for approximately 2% of subjects with profound congenital hearing loss. At present, Waardenburg syndromes have not been mapped to particular human chromosomes. One or more of the mouse mutant alleles,...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.10.618
更新日期:1990-10-01 00:00:00
abstract::We present an extended family with Li-Fraumeni syndrome characterised by gastric and breast carcinoma, glioma, sarcoma, and leukaemia. This family showed strong evidence of linkage to TP53, and three of four tumours analysed showed loss of the wild type allele. A codon 175 missense mutation was identified in exon 5 in...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.12.942
更新日期:1995-12-01 00:00:00
abstract::Mitochondria play a central role in the secretion of insulin by pancreatic beta-cells, and pathogenic mutations of mitochondrial DNA (mtDNA) can cause diabetes. The aetiology of type 2 diabetes has a strong genetic component, raising the possibility that genetic variants of mtDNA alter the risk of developing the disor...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.048876
更新日期:2007-06-01 00:00:00
abstract::Neurofibromatosis type 1 is one of the most common inherited disorders with an incidence of 1 in 3000. The search for NF1 mutations has been hampered by the overall size of the gene, the large number of exons, and the high mutation rate. To date, fewer than 90 mutations have been reported to the NF1 mutation analysis ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.9.706
更新日期:1995-09-01 00:00:00
abstract:BACKGROUND:Sedaghatian-type spondylometaphyseal dysplasia (SSMD) is a neonatal lethal form of spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. As part of the FORGE Canada Con...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-102218
更新日期:2014-07-01 00:00:00
abstract::A study of the ethnic distribution of families attending genetic clinics in Birmingham has shown a deficit of Afro-Caribbean and Pakistani families. The former may be because of a deficiency of autosomal recessive diseases other than sickle cell disease, but the numbers are too small to be certain of this. The deficit...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.1.56
更新日期:1996-01-01 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::Since the advent of C-banding as a routine diagnostic procedure, the significance of heterochromatic polymorphism has been questioned. Some workers have considered variations in heterochromatin in chromosomes 1 and 9 to be associated with fetal wastage, recurrent abortions, and abnormal phenotypes. Over a 15-month per...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.5.358
更新日期:1979-10-01 00:00:00
abstract:BACKGROUND:Pulmonary fibrosis is a complex disease for which the predisposing genetic variants remain unknown. In a prior study, susceptibility to bleomycin induced pulmonary fibrosis was mapped to loci Blmpf1 and Blmpf2 on chromosomes 17 and 11, respectively, in a C57BL/6J (B6, susceptible) and C3Hf/KAM (C3H, resistan...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.027938
更新日期:2005-06-01 00:00:00
abstract::Placental lead levels were studied in a series of Birmingham births classified by stillbirth, neonatal death, or survival beyond one week. There was an appreciable range of lead levels even in normal births (0.15-3.56 microgram/g) but nevertheless average results showed a pronounced excess of lead in those who failed ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.14.5.339
更新日期:1977-10-01 00:00:00
abstract::Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and cleft palate. In the current investigation, linkage analysis has been used to make first trimester diagnostic predictions in a pregnancy at high risk of producing an affected chi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.7.603
更新日期:1996-07-01 00:00:00
abstract:BACKGROUND:Progress has been made in identifying mutations that confer susceptibility to complex diseases, with the prospect that these genetic risks might be used in determining individual disease risk. AIM:To use Crohn disease (CD) as a model of a common complex disorder, and to develop methods to estimate disease r...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.051672
更新日期:2007-11-01 00:00:00
abstract::We identified a large French-Canadian family with 21 cases of breast cancer, including two affected brothers. Segregation of markers from chromosome 13q in this family showed linkage to the BRCA2 gene locus (lod = 3.67 at D13S289). A number of cancers of other types occurred in this family, including three cases of pr...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.12.982
更新日期:1995-12-01 00:00:00
abstract:BACKGROUND:Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX. METHODS:We describe a patient with atypical, long surviving Leigh syndrome carrying two novel mutations in the COX15 gene, which encodes an enzyme involved in the biosynt...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.029926
更新日期:2005-05-01 00:00:00
abstract::This paper describes a genetically male infant with impaired male sex development and partial 9p monosomy. The external genitalia were ambiguous with microphallus (penile length at birth 10 mm, mean age matched normal length 29 mm (SD 5)), hypospadias, and hypoplastic scrotum. The tests were undescended and severely h...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.4.331
更新日期:1997-04-01 00:00:00
abstract:BACKGROUND:Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal dysplasias. The radiological hallmark of SBD is the snail-like configuration of the hypoplastic iliac bo...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2008.065201
更新日期:2009-08-01 00:00:00
abstract::Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has recently been identified. We have developed a rapid diagnostic solid phase minisequencing test to detect the major 1.02 kb deletion which is responsible for 81% of...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.12.1041
更新日期:1996-12-01 00:00:00
abstract::A mother with apparently balanced translocation between chromosomes 4 and 22 gave birth to two children (sib 1 and twin A) with 45,XX,der(4)t(4;22) (p16.3;q11.2)mat,-22 and 45,XY,der(4)t(4; 22(p16.3;q11.2)mat,-22 karyotypes. The mother was a slow learner and required special education. The imbalance in the sibs arose ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.10.852
更新日期:1996-10-01 00:00:00
abstract::A case of partial trisomy 6p is reported with a review of the various characteristics of this syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.6.479
更新日期:1978-12-01 00:00:00
abstract::A boy presenting with an incomplete form of the acrocallosal syndrome is described. The syndrome shows clinical variability and it is stressed that none of the components is constant and facial dysmorphism is not always characteristic. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.8.516
更新日期:1990-08-01 00:00:00