Abstract:
:Among a series of 98 triploid abortions, there were four specimens with two cells lines. The detection of two clones was by Q-banding of chromosomes. Two of these four specimens were dizygotic twins, the third was either a mosaic or monozygotic twins with loss of a sex chromosome from one twin and the fourth was best explained as a chimaera which arose by fertilization of two female pronuclei by three sperms. These two unusual specimens had XYY sex chromosome complements which is rare among triploids. Two additional specimens were diagnosed clinically as possible twin pregnancies but only one cell line was identified from tissue culture. The frequency of twins was of the order of 1/33.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Uchida IA,Freeman VC,Chen PLdoi
10.1111/j.1399-0004.1985.tb00415.xsubject
Has Abstractpub_date
1985-12-01 00:00:00pages
489-94issue
6eissn
0009-9163issn
1399-0004journal_volume
28pub_type
杂志文章abstract::Most publications on the ethical aspects of genetic research into Alzheimer's Disease (AD) concentrate on the differences between the opinions of professionals and non-professionals. Differences in rating of morally relevant issues between groups of professionals have not yet been described. A modified Delphi study in...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01323.x
更新日期:2010-04-01 00:00:00
abstract::In an epidemiological study, infants identified at birth as having sex chromosome anomalies are enrolled in a voluntary, long term evaluations program. Case histories are presented of the first four boys in the series to have a 47,XXY karyotype. They have been followed from birth for 6 to 9 years, with physical and ps...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1975.tb00357.x
更新日期:1975-01-01 00:00:00
abstract::Lipoprotein(a) [Lp(a)] is an important genetic trait associated with cardiovascular disease. While Lp(a) levels have been demonstrated to be approximately twice as high in black adults and children compared with whites, this relationship has not been assessed in the elderly. During the 1987 recall of the Charleston He...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb03887.x
更新日期:1993-11-01 00:00:00
abstract::In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister-chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences. In addition, interphase nuclei present a striking distortion in their conto...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb01354.x
更新日期:1979-12-01 00:00:00
abstract::In this paper we report a 22-year-old male with an asymmetric skeletal dysplasia, affecting almost the whole right part of the body and closely resembling pseudoachondroplastic dysplasia. This "segmental" type of chondrodysplasia is apparently another rare example of a somatic mutation of an autosomal dominant gene in...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1986-10-01 00:00:00
abstract::The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndr...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.13375
更新日期:2019-02-01 00:00:00
abstract::Isolated cleft palate (CP) is considered to be a heterogeneous trait with an important genetic contribution to the etiology. Multifactorial-threshold models of non-syndromic CP inheritance assume a female predominance. The present study of 52 Danish birth cohorts, using several ascertainment sources, identified 2301 C...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04173.x
更新日期:1994-11-01 00:00:00
abstract::This study explored the role of TCOF1 insertion mutations in Taiwanese patients with craniofacial anomalies. Twelve patients with single or multiple, asymmetrical congenital craniofacial anomalies were enrolled. Genomic DNA was prepared from leukocytes; the coding regions of TCOF1 were analyzed by polymerase chain rea...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2011.01765.x
更新日期:2012-11-01 00:00:00
abstract::Chromosomal aberration mostly occurs in chromosomes 21, 18 and 13, with an incidence approximately 1 out of 160 live births in humans, therefore making prenatal diagnosis necessary in clinics. Current methods have drawbacks such as time consuming, high cost, complicated operations and low sensitivity. In this paper, a...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12772
更新日期:2016-11-01 00:00:00
abstract::The parental origin of an extra chromosome in Edwards syndrome has been investigated in 23 families by the combination of the VNTR probe pERT25, two microsatellite polymorphisms for D18S34 and D18S40, and several two-allele polymorphisms. Of the 23 cases, 22 were informative, with 17 (77%) being maternal and 5 (23%) p...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb03847.x
更新日期:1993-08-01 00:00:00
abstract::Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature but also other organs/tissues causing additional clinical abnormalities. A 10-year old boy was evaluated for impaired postnatal linear growth (height 1...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12887
更新日期:2017-05-01 00:00:00
abstract::In a country-wide screening examination in Sweden, PKU was observed in 75 (4.5 per 1,000) and hyperphenylalaninemia in 14 (0.8 per 1,000) of a total of 16,805 patients in institutions for the mentally retarded. In the national neonatal screening program in 1965-1975, which covered nearly 1 million individuals, PKU was...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb00054.x
更新日期:1976-12-01 00:00:00
abstract::Catechol-O-methyltransferase (COMT) activity in erythrocytes was measured in six children with Down's syndrome and in their parents to determine if COMT activity is related to a gene on chromosome 21. A gene dosage effect was a possible explanation of the COMT value in three of the children but not in the other three....
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1982.tb01405.x
更新日期:1982-07-01 00:00:00
abstract::Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. A retrospective review of the clinical records and radiological images of 205 patients with tuberous sclerosis complex (TSC) was performed to evaluate the prevalence and progression of hepatic lesions; examine the association of...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2012.01845.x
更新日期:2012-12-01 00:00:00
abstract::Malignant hyperthermia (MH)-related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the RYR1 phenotypes. We ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12508
更新日期:2015-10-01 00:00:00
abstract::Chromosome displays and listings are presented showing loci whose position is known in both man and mouse, in similar manner to our previous report (Dalton et al. 1981). There is now evidence for at least 27 conserved autosomal segments with two or more loci in the two species. The human and mouse chromosome maps show...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00780.x
更新日期:1984-07-01 00:00:00
abstract::The concept of personality disorders is based on deviant personality traits in both the DSM-III-R and ICD-10 classifications. A diagnosis of personality disorder can be made reliably with structured interviews. Many individuals are diagnosed with more than one personality disorder, and other mental disorders are often...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1994.tb04215.x
更新日期:1994-07-01 00:00:00
abstract::Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2012.01879.x
更新日期:2013-01-01 00:00:00
abstract::In the present study the kindred with Marner's cataract (CAM), which now comprises nine generations, was examined for linkage with 14 marker loci. We found strong evidence for linkage to haptoglobin, zmax = 8.33 at thetamax = 0.05 for males and thetamax = 0.04 for females. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1988.tb02875.x
更新日期:1988-10-01 00:00:00
abstract::Extended genealogical studies stretching back to the 17th century were performed concerning the heredity patterns of vitreous involvement in Swedish patients with familial amyloidotic polyneuropathy (FAP). FAP is an autosomal dominant inherited disorder, characterized by extracellular deposition of amyloid and a clini...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03117.x
更新日期:1991-12-01 00:00:00
abstract::Two 1p36 contiguous gene deletion syndromes are known so far: the terminal 1p36 deletion syndrome and a 1p36 deletion syndrome with a critical region located more proximal at 1p36.23-1p36.22. We present even more proximally located overlapping deletions from seven individuals, with the smallest region of overlap compr...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13739
更新日期:2020-06-01 00:00:00
abstract::The symptomatic treatment of dopa-responsive dystonia (DRD) emphasizes the importance of molecular analyses of the GCH-1, TH and parkin genes. However, these analyses have not been extensively studied in Chinese DRD patients. Ten DRD families from the Han ethnic group including 14 patients and 28 clinically unaffected...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2008.01039.x
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND:Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly inherited limb-girdle muscular dystrophy or distal-onset myopathy. MATERIALS AND METHODS:Exome sequencing was performed to investigate a Taiwanese family with a dominantly inherited distal-onset myopathy. Functional effects of t...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13001
更新日期:2017-08-01 00:00:00
abstract::We have recently characterized the transcriptome of the omental adipose tissue of non-diabetic, obese men with and without the metabolic syndrome (MS). The cysteine-rich protein 61 (CYR61) is one of the most differentially expressed genes between the groups and has been selected for a detailed molecular investigation....
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2007.00855.x
更新日期:2007-09-01 00:00:00
abstract::Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array-CGH patients presenting non-syndromic hearing ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12683
更新日期:2016-04-01 00:00:00
abstract::The roles of genetic polymorphisms in the pathogenesis of recurrent miscarriage (RM) have been intensively studied. However, the results of these studies were inconsistent, especially when conducted in different populations. Therefore, we performed the current study to systematically review the broad spectrum of genet...
journal_title:Clinical genetics
pub_type: 杂志文章,meta分析,评审
doi:10.1111/cge.12910
更新日期:2017-02-01 00:00:00
abstract::In order to evaluate the involvement of the peripheral autonomic nervous system in the pathogenesis of type 1 familial amyloid polyneuropathy, the urinary excretion rates of catecholamines and serum dopamine-beta-hydroxylase (DB/) activity were examined in 22 patients at various clinical stages. Changes in both indice...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb00860.x
更新日期:1979-08-01 00:00:00
abstract:BACKGROUND:In addition to whole exomes, large gene panels of clinically associated genes are used as high-throughput sequencing tests in many clinical centers, but their clinical utility has been much less investigated. MATERIALS AND METHODS:Here we report the results of the 501 first unselected cases for whom TruSigh...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13031
更新日期:2018-01-01 00:00:00
abstract::Genetic and environmental factors have been implicated in the etiology of atopy and of serum IgE levels. In order to eliminate post-natal environmental influences we measured IgE in cord blood (CB-IgE) from a cohort of unselected, like-sexed twins. IgE determination was performed with a sensitive radioimmunoassay with...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02384.x
更新日期:1996-11-01 00:00:00
abstract::We report a 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1997.tb02542.x
更新日期:1997-09-01 00:00:00