Abstract:
:To evaluate whether the CF carrier status has any lasting effect on anxiety and on self-concept at least 1 year after the disclosure of the test result, an in-depth interview and additional psychological tests were administered in a group of adults who participated in a previous study which suggested a slight stigmatizing effect of the CF carrier status. Besides carrier status, the role of a second factor-degree of relationship-was investigated. Analysis of Variance (MANOVA or ANOVA) revealed no effect on state and trait anxiety (STAI) and almost no effect on the six subscales of the Tennessee Self-Concept Scale. The absence of a lasting negative effect of the CF carrier status on anxiety and self-concept is a very important finding. Nevertheless, an intriguing significant interaction effect was found: the group of sibs carrying the CF gene felt less integrated in the family than the group of non-carrier sibs. This effect of carrier status was not found in the more distant relatives. It is important to pay sufficient attention to this problem during genetic counseling when brothers or sisters of a CF patient receive a test result.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Denayer L,Welkenhuysen M,Evers-Kiebooms G,Cassiman JJ,Van den Berghe Hdoi
10.1111/j.1399-0004.1996.tb03779.xsubject
Has Abstractpub_date
1996-05-01 00:00:00pages
232-6issue
5eissn
0009-9163issn
1399-0004journal_volume
49pub_type
杂志文章abstract::Previous research and clinical experience suggest that Huntington's disease (HD) can considerably affect family life, particularly for young people (YP) at risk. The goal of this study was to describe the experiences of YP from families affected by HD. YP were identified through the regional genetics clinic and the Sc...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2006.00702.x
更新日期:2007-02-01 00:00:00
abstract::The ability of statins to strongly reduce low-density lipoprotein cholesterol (LDL-C) varies interindividually and is partially influenced by genetic variants. Based on a comprehensive analysis of 23 single nucleotide polymorphisms (SNPs) known to be associated with pharmacokinetics and dynamics of statins, we develop...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12890
更新日期:2017-03-01 00:00:00
abstract::We describe two patients, a 19-year-old girl and a 19-year-old boy, with mosaic trisomy 18 and pigmentary dysplasias. Both patients had profound growth and mental retardation, marked kyphoscoliosis, bushy eyebrows, bulbous nose, simple ears, and joint contractures - clinical manifestations of long survivors with mosai...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb02988.x
更新日期:1991-01-01 00:00:00
abstract::A child is described with most of the typical clinical features of the cri-du-chat syndrome. G- and C-banding studies revealed the karyotype 45,XX, -5, -15, +tdic (5;15) with the loss of short arm material from chromosome 5. Centromeric heterochromatin of the translocated No. 15 is still present in the translocation c...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1978.tb02100.x
更新日期:1978-12-01 00:00:00
abstract::Red hair color (RHC) was studied in a Danish material of normal families that was tested earlier for 65 marker systems. We found 4.85% of the parents to be red-haired or to have been so early in life. Scoring RHC for linkage as an autosomal dominant against blond and as hypostatic to dark hair gave a lod score of z = ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb03339.x
更新日期:1987-08-01 00:00:00
abstract::Fluorescent in situ hybridization with probes specific for a chromosomal subregion and chromosome-specific libraries (chromosome painting) are important new methods for assessing chromosome rearrangements. In this paper we present four patients with additional chromosomal material on chromosome 8p who have been studie...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04024.x
更新日期:1994-04-01 00:00:00
abstract::Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The a...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.12864
更新日期:2017-07-01 00:00:00
abstract::Pathogenic biallelic variants in the BLM/RECQL3 gene cause a rare autosomal recessive disorder called Bloom syndrome (BS). This syndrome is characterized by severe growth delay, immunodeficiency, dermatological manifestations and a predisposition to a wide variety of cancers, often multiple and very early in life. Lit...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13859
更新日期:2021-02-01 00:00:00
abstract::Phenotypic variations in α-thalassemia mainly depend on the defective α-globin gene number. Genetic modifiers of the phenotype of Hemoglobin H (HbH) disease were poorly reported, apart from β-thalassemia allele that was identified ameliorating the severity of α-thalassemia. Because erythroid Krüppel-like factor (KLF1)...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12443
更新日期:2015-07-01 00:00:00
abstract::A dysmorphic child was found by cytogenetic analysis to have an extra small marker chromosome. The marker chromosome was shown to possess a chromosome 18 centromere by in situ hybridization, and probably represents an isochromosome 18p. Centromere specific probes should be of value in identifying extra small marker ch...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03054.x
更新日期:1991-06-01 00:00:00
abstract::Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G, is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12745
更新日期:2016-08-01 00:00:00
abstract::Five sibs with related parents are presented. All the sibs have short atrioventricular conduction time (P-R interval). The short P-R interval is probably an inherited feature in the family. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1976-08-01 00:00:00
abstract::Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2004.00230.x
更新日期:2004-04-01 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::With the use of more stringent diagnostic criteria, it has recently been shown that some large pedigrees of Alport's and non-Alport's hereditary nephritis fit sex-linked dominant inheritance (O'Neill et al. 1978). We have used similar diagnostic criteria and have studied a number of Michigan pedigrees in order to see ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1980.tb00149.x
更新日期:1980-04-01 00:00:00
abstract::A sample of psychotic and prepsychotic twins is presented, based on 9000 patients born during 1930--1946 and admitted to psychiatric departments in Scania, Sweden, during the 1960's. All twins of the same sex (76 pairs) were registered and their records examined. Twenty-three complete pairs, where one or both twins sh...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00728.x
更新日期:1981-05-01 00:00:00
abstract::In the Arab population of Kuwait of approximately 1.3 million, 26 cases in 15 families were ascertained to have Bardet-Biedl syndrome (20 cases in 13 families) or Laurence-Moon syndrome (6 cases in 2 families). The apparently increased frequency of these interrelated autosomal recessive syndromes in Arabs is discussed...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1988.tb03414.x
更新日期:1988-02-01 00:00:00
abstract::The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. W...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12856
更新日期:2017-04-01 00:00:00
abstract::RUNX2 (Runt-related transcription factor 2) is a master regulator of osteoblast differentiation, cartilage and bone development. Pathogenic variants in RUNX2 have been linked to the Cleidocranial dysplasia (CCD), which is characterized by hypoplasia or aplasia of clavicles, delayed fontanelle closure, and dental anoma...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13610
更新日期:2019-11-01 00:00:00
abstract::Ophthalmology has been an early adopter of personalized medicine. Drawing on genomic advances to improve molecular diagnosis, such as next-generation sequencing, and basic and translational research to develop novel therapies, application of genetic technologies in ophthalmology now heralds development of gene replace...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.12389
更新日期:2014-07-01 00:00:00
abstract::Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often quadrupedal gait. The few cases reported in the medical literature are all...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13666
更新日期:2020-03-01 00:00:00
abstract::The significance of variation within the genes coding for three glucose transporter proteins in the aetiology of non-insulin dependent diabetes mellitus was assessed by analysing restriction fragment length polymorphisms in an English Caucasian population. Two polymorphisms at the HepG2/erythrocyte glucose transporter...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03252.x
更新日期:1992-11-01 00:00:00
abstract::Ganglioside GM2 and its asialo-derivative, GA2 were radiolabeled in their N-acetyl-D-galactosaminyl moieties by oxidation with galactose oxidase and reduction with tritiated sodium borohydride. Specific activities of 6 X 10(4) dpm/nmol (GM2) and 1.8 X 10(6) dpm/nmol (GA2) were achieved. About 98% of the label was in N...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb01296.x
更新日期:1977-03-01 00:00:00
abstract::We report here the clinical, genetic, and molecular characteristics of a large Chinese family exhibiting non-syndromic, late-onset autosomal dominant sensorineural hearing loss. Clinical evaluation revealed variable phenotypes of hearing loss in terms of severity and age-at-onset of disease in these subjects. Genome-w...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2007.00889.x
更新日期:2007-11-01 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::Clinical descriptions of individuals with partial deletion of the distal short arm of chromosome three have been reported rarely. A characteristic phenotype has been proposed. We present another patient with this cytogenetic abnormality whose physical and developmental features show similarities with, as well as diffe...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb02283.x
更新日期:1985-04-01 00:00:00
abstract::Usher syndrome has been historically categorized into one of three classical types based on the patient phenotype. However, the vestibular phenotype does not infallibly predict which Usher genes are mutated. Conversely, the Usher syndrome genotype is not sufficient to reliably predict vestibular function. Here we pres...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13868
更新日期:2021-02-01 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::A total of 206 patients with Marfan syndrome were ascertained throughout genetic clinics in Wales and Scotland during the period 1970-1990. There were 45 deaths representing 22% of the cohort. Mean age at death was 45.3+/-16.5 years. 50% median cumulative survival in the total cohort (n=206) was 53 years for males and...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1998.tb03714.x
更新日期:1998-08-01 00:00:00
abstract::Noonan syndrome (NS) is a congenital abnormality that affects multiple parts of the body. Approximately 50% of cases are caused by mutations in the PTPN11 gene. NS shares many clinical features with a group of developmental disorders including Costello syndrome and cardio-facio-cutaneous (CFC) syndrome. Recently, KRAS...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2007.00839.x
更新日期:2007-08-01 00:00:00