Abstract:
:Mental retardation associated with short stature, craniofacial dysmorphism, macrodontia and minor skeletal anomalies is reported in two sisters and their mother. The similarity with and the relationship to the KBG syndrome is discussed and the importance of clinical syndrome identification in familial mental retardation is emphasised.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Fryns JP,Haspeslagh Mdoi
10.1111/j.1399-0004.1984.tb00792.xsubject
Has Abstractpub_date
1984-07-01 00:00:00pages
69-72issue
1eissn
0009-9163issn
1399-0004journal_volume
26pub_type
杂志文章abstract::The logistic regression model is a popular model for data analysis in epidemiological research. In this paper, we use this model to analyze genetic data collected from gene-longevity association studies. This new approach models the probability of observing one genotype as a function of the age of investigated individ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2001.600610.x
更新日期:2001-12-01 00:00:00
abstract::Most but not all epidemiologic studies have shown that lipoprotein(a) [Lp(a)] is a risk factor for cardiovascular disease (CVD). Lp(a) levels are also strongly genetically influenced. The purpose of this study was to evaluate the association between Lp(a) levels in adult offspring and parental CVD mortality in 61 kind...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2001.600304.x
更新日期:2001-09-01 00:00:00
abstract::We report our findings in four cases of metachromatic leukodystrophy diagnosed in Greece during the last 4 years. The age of onset and the clinical symptoms were those described for the late infantile form of the disease. However, one patient retained his speech and mental abilities despite his pronounced motor regres...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03387.x
更新日期:1990-01-01 00:00:00
abstract::A study of the family of a patient who had an SLE-like syndrome and an extremely low serum C4 revealed an inheritance of C4 types and HLA region markers which indicated that the patient had 60--70% of "normal" C4 level prior to the onset of disease. Thus the extremely low C4 level during her disease may result from a ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb01005.x
更新日期:1979-11-01 00:00:00
abstract::In a study of 95 presumably healthy, 40-42-year old males from Northen Sweden, the Lp(a) phenotype distribution differed between those who had, and those who did not have one or more close relatives (parent or sib) with coronary heart disease. In the former group, 60% of the males were Lp(a+), as opposed to 28% in the...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb01014.x
更新日期:1979-11-01 00:00:00
abstract::46,XY gonadal dysgenesis was transmitted as an autosomal-dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with normal female genitalia or sexual ambiguity, to mild hypospadias in otherwise normal m...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2003.00082.x
更新日期:2003-06-01 00:00:00
abstract::It has been reported that the frequency of congenital heart defects (CHD) in children of an affected parent is now three to five times what it was 20 years ago. One conceivable cause of this is that patients with CHD of a severity that would have precluded parenthood before the advent of treatment are now able to (and...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb03345.x
更新日期:1987-09-01 00:00:00
abstract::A Sicilian family is reported in which 36 individuals, in 5 successive generations, were affected with congenital cataracts, microcornea and myopia with an autosomal pattern of inheritance. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb01216.x
更新日期:1985-07-01 00:00:00
abstract::Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatrop...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.560110.x
更新日期:1999-07-01 00:00:00
abstract::Allogeneic bone marrow transplantation was carried out in an 81-day-old Portuguese water dog with GM1 gangliosidosis using a DLA identical sibling as donor. Engraftment was complete and beta-galactosidase activity in leukocytes of the transplanted dog were similar to those in the donor. Over the next 2.5 months neurol...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03581.x
更新日期:1990-10-01 00:00:00
abstract::Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder caused by loss of function mutations of PKD1 or PKD2 genes. Although PKD1 is highly polymorphic and the new mutation rate is relatively high, the role of mosaicism is incompletely defined. Herein, we describe the molecular analysi...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12383
更新日期:2015-04-01 00:00:00
abstract::Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510. ...
journal_title:Clinical genetics
pub_type: 评论,杂志文章
doi:10.1111/cge.12471
更新日期:2014-11-01 00:00:00
abstract::The von Hippel Lindau (VHL) syndrome is an inherited multi-tumour disorder characterised by clinical heterogeneity and high penetrance. The VHL gene has been shown to be a tumour-suppressor gene. A carrier of a germline mutation will be predisposed to a high variety of benign and malign tumours affecting different org...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.560305.x
更新日期:1999-09-01 00:00:00
abstract::In 1984, we interviewed 105 Belgian families with a Cystic Fibrosis (CF) child in order to assess the impact of the birth of their CF-child on subsequent family planning and to evaluate their attitudes towards prenatal diagnosis. Three years later, in 1987, they received a mailed questionnaire for an updating of the r...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03504.x
更新日期:1990-03-01 00:00:00
abstract:BACKGROUND:Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect copy number variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). AIMS:Identification of genomic disorders in DD/ID. MATERIALS AND METHODS:We performed a comprehensive array-CGH investiga...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13009
更新日期:2017-10-01 00:00:00
abstract::This paper reports on the presentations from the second session of a 2-day workshop on genetic diversity and science communication, organized by the Institute of Genetics. The four talks in this session (by Sarah Cunningham-Burley, Gail Geller, Michael Hayden, and Theresa Marteau) focused on the topic of risk assessme...
journal_title:Clinical genetics
pub_type:
doi:10.1111/j.1399-0004.2006.00681.x
更新日期:2006-11-01 00:00:00
abstract::We have performed cytogenetic and molecular analyses of 45,X mosaics involving structurally abnormal Y chromosomes. Karyotypes were performed by standard cytogenetic methods and, in some cases, by fluorescence in situ hybridization, to distinguish monocentric and dicentric chromosomes. In addition, the deletions of Yq...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2000.570408.x
更新日期:2000-04-01 00:00:00
abstract::One hundred amniotic fluids were tested for the presence of ABH blood group substances. Gestation at amniocentesis ranged from 12 to 28 weeks, with a mean of 16.6 weeks. The secretor status of the fluid was correlated with the secretor status of the baby after birth as determined from a sample of saliva. Fluid and sal...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1980.tb01018.x
更新日期:1980-08-01 00:00:00
abstract::Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this study, we surveyed clinicians with particular expertise in the manage...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2002.620512.x
更新日期:2002-11-01 00:00:00
abstract::We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome) and del(21)(q22). To our knowledge, this is the first observation of Imerslund-Grasbeck syndrome associated with del(21)(q22) in the literature. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02637.x
更新日期:1996-10-01 00:00:00
abstract::A case of Fanconi anemia with terminal acute leukemia is reported. Clones with chromosome abnormalities were observed in bone marrow cells. The patterns of marker chromosome distribution in these clones suggests the occurrence of a somatic segregation mechanism. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb01336.x
更新日期:1977-06-01 00:00:00
abstract::The cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis is reported. G-banded chromosomes of cultured peripheral blood lymphocytes of one subject had a constitutional chromosomal translocation, t(7;13)(p22;q21). No constitutional chromosome abnormality was found in any of the other 22 Japan...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1995.tb03950.x
更新日期:1995-03-01 00:00:00
abstract::We describe a family in which three sibs are compound heterozygotes for two rather rare CFTR splice-site mutations, the 621 + 1G-->T and the 711 + 1G-->T mutations. Little phenotypic variation was observed between sibs, of whom two are deceased. Their disease is characterized by pancreatic insufficiency, a severe pulm...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1997.tb02456.x
更新日期:1997-03-01 00:00:00
abstract::A 28-year-old woman who complained of irregular menstruation was diagnosed as suffering from trisomy 18 mosaicism. She was karyotyped because of her characteristic face, mild mental retardation and aberrant hyperpigmentation of the skin. Her motor function was within normal range. Physical and laboratory examinations,...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb04335.x
更新日期:1996-02-01 00:00:00
abstract::The ectodermal dysplasias (EDs) are a large and complex nosologic group of diseases; more than 170 different pathologic clinical conditions have been identified. Despite the great number of EDs described so far, few causative genes have been identified. We review EDs in the light of the most recent molecular findings ...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1034/j.1399-0004.2000.580601.x
更新日期:2000-12-01 00:00:00
abstract::A girl and her newborn brother with factor XIII deficiency from a family, which has not previously been reported, as described; two other Israeli families are reviewed. The sexes are equally affected. In two of the three families there was consanguinity among the parents. The families fit autosomal recessive inheritan...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb01057.x
更新日期:1981-12-01 00:00:00
abstract::In the McCune-Albright syndrome, fibrous dysplasia of bones and various forms of endocrine dysfunction are associated with multiple pigmented skin lesions. Examination of a 4-year-old female patient and comparison with photographs published in the literature revealed that the cutaneous pigmentation is arranged in a sy...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb01261.x
更新日期:1986-04-01 00:00:00
abstract::Important insights in the process of genetic counseling can be provided by establishing levels of satisfaction. The aim of our study was to compare counselees' and counselors' satisfaction with the initial consultation in reproductive genetic counseling and to gain insight into the factors associated with their conten...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2007.00834.x
更新日期:2007-08-01 00:00:00
abstract::Major histocompatibility complex (MHC) haplotypes, including HLA-A, -B, -C and -DR and complotypes (BF, C2, C4A and C4B) were determined in a large family with inherited C4 deficiency. The propositus, a 12-year-old girl with complete C4 deficiency and SLE, had the MHC haplotypes HLA-A2,Cw3,-B40,-DR6,BFS,C2C,C4AQO,C4AB...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb02211.x
更新日期:1985-11-01 00:00:00
abstract::A role for BRCA1 and BRCA2 in the control of genome integrity easily fits a tumor suppressor model. It is well established that mutations in DNA repair genes lead to genomic instability (138). Genomic instability may directly lead to tumorigenesis by allowing for the accumulation of mutations in key cell cycle regulat...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1998.tb03764.x
更新日期:1998-12-01 00:00:00