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 five year estimates were also calculated separately for each of the five four year periods during these 20 years. Additionally, we compared two different methods of estimating these risk rates by using a third population of whites, and compared two different statistical methods of smoothing the risk rates. The results indicate good agreement between the metropolitan Atlanta and south west Ohio estimates within races, but show a statistically significant difference between the two race categories. Because 86% of live births in the "other races" category in the combined population are to blacks, these data may be seen as the first estimates of maternal age specific risk rates for Down syndrome among blacks calculated by one year intervals. We found excellent agreement in the risk rate estimates among the five four year time periods, between the estimates obtained by using the two different methods of estimation, and between the estimates obtained using the two different methods of statistical smoothing. Our estimated risk rates for white women in their 20s strongly reinforce those from previous studies currently being used for genetic counselling purposes. While we did find somewhat higher rates for women under 20, and increasingly higher rates for those over 30 years of age, these differences are not substantial. Thus, this study in general supports the risk rates estimated from data collected mostly during the 1960s and 1970s.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Huether CA,Ivanovich J,Goodwin BS,Krivchenia EL,Hertzberg VS,Edmonds LD,May DS,Priest JHdoi
10.1136/jmg.35.6.482subject
Has Abstractpub_date
1998-06-01 00:00:00pages
482-90issue
6eissn
0022-2593issn
1468-6244journal_volume
35pub_type
杂志文章abstract:BACKGROUND:The 5α-reductase type 2 (5α-RD2) deficiency caused by mutations in the steroid 5α-reductase 2 (SRD5A2) gene results in variable degrees of undervirilisation in patients with 46,XY disorders of sex development. This study aims to profile the regional distribution and phenotype-genotype characteristics of SRD5...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmedgenet-2018-105915
更新日期:2019-10-01 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::BACKGROUND Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all types). Although the mutational spectra are distinct, these disorders share major features and 10% of DS patients have an inherited SCN1A mutation. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.074328
更新日期:2010-06-01 00:00:00
abstract::The risk of breast cancer for unaffected men who test positive for a BRCA2 mutation is based on very few retrospective studies. We have used both retrospective and prospective analysis in 321 families with pathogenic BRCA2 mutations. Three breast cancers occurred in male first-degree relatives after family ascertainme...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.075176
更新日期:2010-10-01 00:00:00
abstract::The m.8993T-->C MTATP6 mutation of mitochondrial DNA (mtDNA) usually causes mitochondrial disease in childhood, but was recently described in a family with adult onset ataxia and polyneuropathy. Cytochrome c oxidase muscle histochemistry, which is the standard clinical investigation for mitochondrial disease in adults...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2007.052902
更新日期:2007-12-01 00:00:00
abstract::Dominantly inherited osteogenesis imperfecta is consistently linked to the two loci encoding the alpha 1 and alpha 2 subunits of collagen 1, the predominant bone collagen. We have performed several prenatal diagnoses based on identification of the segregating allele at the concordant locus in chorionic villus samples ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.3.145
更新日期:1991-03-01 00:00:00
abstract::We describe a patient with developmental delay, mild dysmorphic features, and monosomy of 7q35. Only one other patient with an interstitial deletion of this band has been previously reported. A review of clinical features of these two children did not show similarities in dysmorphic features. Reports of patients with ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.9.738
更新日期:1994-09-01 00:00:00
abstract::We report on a proband with both a Robertsonian translocation and Turner's syndrome. Study of the parental origin of the X chromosome performed by microsatellite analysis indicates paternal origin of the X chromosome (Xpat). The occurrence of chromosome aberrations as a consequence of interchromosomal interactions is ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.3.255
更新日期:1994-03-01 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:Results of a Scandinavian genome scan in type 1 diabetes mellitus (T1D) have recently been reported. Among the novel, not previously reported chromosomal regions showing linkage to T1D was a region on chromosome 21. OBJECTIVE:To fine map this region on chromosome 21. METHODS AND RESULTS:The linked region w...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.022004
更新日期:2005-01-01 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::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:BACKGROUND:Limb development is a complex process requiring proper spatio-temporal expression of a network of limb specific morphogens. Grem1 and Fmn1 play an important role in mouse and chick limb development. The mouse limb deformity (ld) phenotype with digit reduction, syndactyly, radio-ulnar synostosis, variable ren...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.073833
更新日期:2010-08-01 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::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::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::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::We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.29.5.326
更新日期:1992-05-01 00:00:00
abstract::A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter). ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.4.323
更新日期:1979-08-01 00:00:00
abstract:BACKGROUND:Congenital fibrosis of the extraocular muscles (CFEOM) is a heterogeneous group of disorders that may be associated with other anomalies. The association of a CFEOM syndrome with ulnar hand abnormalities (CFEOM/U) has not been reported to date. OBJECTIVE:To describe a new autosomal recessive syndrome of CFE...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.026138
更新日期:2005-05-01 00:00:00
abstract::The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.4.274
更新日期:1996-04-01 00:00:00
abstract::A family is reported which a diabetic woman gave birth to two children with the caudal regression anomalad (CRA). There were no obvious genetic factors. This is the first reported familial case of CRA with maternal diabetes. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.1.17
更新日期:1979-02-01 00:00:00
abstract::In total, 200 families were reviewed with directly transmitted, cytogenetically visible unbalanced chromosome abnormalities (UBCAs) or euchromatic variants (EVs). Both the 130 UBCA and 70 EV families were divided into three groups depending on the presence or absence of an abnormal phenotype in parents and offspring. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.2004.026955
更新日期:2005-08-01 00:00:00
abstract::A female child with multiple vertebral and rib abnormalities is described. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.1.68
更新日期:1984-02-01 00:00:00
abstract::Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. Repeats with 32 to 200 CAGs are associated with the disease, whereas normal chromosomes contain 13 to 33 repeats. We tested 220 families of different geographical origins for the SCA2 mutation. Thi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-05-01 00:00:00
abstract::Idiopathic torsion dystonia (ITD) has long been considered to be genetically determined, but the pattern of inheritance has been unclear. It has been suggested that inheritance may differ in Jews and non-Jews. In the present study, data gathered in a nationwide survey of ITD in Israel were analysed. Between 1969 and 1...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.1.13
更新日期:1984-02-01 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::The families of 102 index patients with bladder exstrophy treated at The Hospital for Sick Children, Great Ormond Street were studied in an attempt to arrive at an empirical risk of recurrence for sibs. Of the 102 patients, 89 had complete exstrophy, eight had partial exstrophy (variant), and five had exstrophy of the...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.2.139
更新日期:1980-04-01 00:00:00
abstract:BACKGROUND:Consensus clinical diagnostic criteria for neurofibromatosis type I (NF1) include café-au-lait macules and skinfold freckling. The former are frequently the earliest manifestation of NF1, and as such are of particular significance when assessing young children at risk of the condition. A phenotype of predomi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-101648
更新日期:2013-09-01 00:00:00
abstract::A large body of data on segregating families is used to generate specific recurrence risks conditional on sex and birth order for the best-fitting model of polygenes plus maternal effect. The method is general for diseases of complex inheritance, and lies within the competence of any serious genetic clinic. The questi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.14.6.408
更新日期:1977-12-01 00:00:00