Abstract:
:This review assessed parents' attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents' attitudes toward childhood genetic testing. We searched Medline, Medline In-Process, EMBASE, PsycINFO, Social Work Abstracts and CINAHL. We screened 945 abstracts and identified 21 studies representing the views of 3934 parents. Parents reported largely positive attitudes toward childhood genetic testing across different genetic tests with varying medical utility. Parents perceived a range of advantages and disadvantages of childhood genetic testing. Childhood genetic testing was viewed by most as beneficial. Parents' education level, genetic status, sex and sociodemographic status were associated with reported attitudes. This yielded some conflicting findings, indicating the need for further research. Genetic counseling remains essential to support this population in making well-informed decisions. Targeted interventions tailored to specific families with different sociodemographic characteristics may be useful. Further research on the long-term impact of childhood genetic testing on families is warranted.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Lim Q,McGill BC,Quinn VF,Tucker KM,Mizrahi D,Patenaude AF,Warby M,Cohn RJ,Wakefield CEdoi
10.1111/cge.12989subject
Has Abstractpub_date
2017-12-01 00:00:00pages
569-578issue
6eissn
0009-9163issn
1399-0004journal_volume
92pub_type
杂志文章,评审abstract::Variable constitutional mosaicism, mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47, XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a lymphoblastoid cell line and in cultured skin fibroblasts from a mentally retarded patient with neurofibromatosis. Both the ring chromosome and t...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03233.x
更新日期:1992-10-01 00:00:00
abstract::The aim of the study was to determine any association of physical activity and Taq 1B polymorphism in the cholesteryl ester transfer protein gene on high-density lipoprotein (HDL) cholesterol. Five hundred and four subjects, 390 males and 114 females consisting of an equal number of age- and sex-matched healthy contro...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.0009-9163.2004.0237.x
更新日期:2004-05-01 00:00:00
abstract::SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnose...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12388
更新日期:2015-04-01 00:00:00
abstract::A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have been identified in patients with the severe iron overload disorder juvenile hemochromatosis (JH). The aim of the present study was to evaluate the molecular background of JH in patients from central parts of Europe. Seque...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2005.00413.x
更新日期:2005-05-01 00:00:00
abstract::In an ethnically-homogeneous population, it is valuable to identify founder mutations in cancer-predisposing genes. Founder mutations have been found in four breast-cancer-predisposing genes in French-Canadian breast cancer families. The frequencies of the mutant alleles have been measured neither in a large series of...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01277.x
更新日期:2009-11-01 00:00:00
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 retardati...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00792.x
更新日期:1984-07-01 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::Identifying a mutation in a heterogeneous disease such as inherited cardiomyopathy is a challenge because classical methods, like linkage analysis, can often not be applied as there are too few meioses between affected individuals. However, if affected individuals share the same causal mutation, they will also share a...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01472.x
更新日期:2011-05-01 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::Complex chromosomal rearrangements (CCRs) are rare findings in clinical cytogenetics. As a result of the high risk of unbalanced segregation, familial cases are even rarer and maternal transmission occurs more frequently than paternal transmission. Analogous to Drosophila and mice, as well as to CCRs involving the Y c...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01419.x
更新日期:2010-12-01 00:00:00
abstract::Hypotrichosis is a human hereditary hair loss disorder in which affected individuals show sparse to complete absence of hair on scalp and/or on different body parts. To date, at least eight isolated autosomal recessive and dominant forms of hypotrichosis loci have been mapped on different human chromosomes, and the co...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01455.x
更新日期:2011-03-01 00:00:00
abstract::The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual dis...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.13127
更新日期:2019-02-01 00:00:00
abstract::Steatocystoma Multiplex (S.M.) is an inherited condition characterized by the appearance of cysts during the first or second decade of life. Familial cases have occasionally been reported. We studied 13 patients affected by S.M. from two unrelated families, focusing our attention on HLA, Gm and Km genotypes and on chr...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb03176.x
更新日期:1989-08-01 00:00:00
abstract::Tricho-dento-osseous (TDO) syndrome is an autosomal dominant trait characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. Genetic studies have identified a 4-bp deletion in the DLX3 gene that is associated with TDO; ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2012.01907.x
更新日期:2013-04-01 00:00:00
abstract::Mutations in the NPC1 or NPC2 gene are responsible for Niemann-Pick type C (NPC) disease (OMIM #257220), an autosomal recessive neurodegenerative lysosomal storage disorder caused by an incorrect regulation of intracellular lipid trafficking. A molecular analysis carried out in 30 unrelated patients identified 43 dist...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01504.x
更新日期:2011-07-01 00:00:00
abstract::From a large Danish material of random families we selected families with dyslexia as reported by the families themselves and as recorded by a dyslexia institute. Among five "backcross families" studied for chromosome 15 polymorphisms we found only negative lod scores, and at theta = 0.10 a negative score of -3.42; i....
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb03337.x
更新日期:1987-08-01 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::Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4-30% of microphthalmia, with the lowest rate in unilateral cases. We identified four novel pathogenic loss-of-function all...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13897
更新日期:2020-12-13 00:00:00
abstract::The dentin sialophosphoprotein (DSPP) gene encodes the most abundant non-collagenous protein in tooth dentin and DSPP protein is cleaved into several segments including the highly phosphorylated dentin phosphoprotein (DPP). Mutations in the DSPP gene have been solely related to non-syndromic form of hereditary dentin ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01483.x
更新日期:2011-04-01 00:00:00
abstract::The molecular genetics of GM1 beta-galactosidase is reviewed. This enzyme exists in two forms, A and B. Form A is monomeric with a molecular weight of 72,000 and appears to be coded by a single autosomal locus. Form B is polymeric and cross-reacts with anti-A antibodies; it is coded wholly or in part by the same locus...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:
更新日期:1975-11-01 00:00:00
abstract::This report compares the pathogenetic influences of selective deletion and triplicaton of chromosome 13 derived from a familial 12;13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46,XY,del (13) (pter leads to q12.5: :q22.1 leads to qter)mat],...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb01743.x
更新日期:1979-04-01 00:00:00
abstract::Between 1994 and 1998, the 23 UK genetics departments, which form the UK Huntington's Disease Consortium, have undertaken 161 direct mutation adult predictive tests on individuals whose at-risk parent was alive or had died without showing signs of Huntington's disease (HD) (5.7% of total UK tests). This study describe...
journal_title:Clinical genetics
pub_type: 杂志文章,多中心研究
doi:10.1034/j.1399-0004.2000.580107.x
更新日期:2000-07-01 00:00:00
abstract::Split-hand/split-foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of 1 or more digits and/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosoma...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13152
更新日期:2018-03-01 00:00:00
abstract::Three fertile, non-mosaic patients with partial monosomy of an X-chromosome (two with Xp deletion with breakpoints at Xp1106 and Xp2101, respectively, and one with a del(Xq25)) were found among 12 females with Xp deletion and three with Xq deletion investigated in this laboratory after the advent of banding techniques...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1982.tb01416.x
更新日期:1982-08-01 00:00:00
abstract::Neurodevelopmental and psychological aspects in a child with 49XYYYY karotype are described. The developmental examination revealed mild mental retardation (I.Q.=50), disturbances in gross and fine motor development and speech disorders. The child was treated by developmental therapy which improved his abilities for a...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb01913.x
更新日期:1986-12-01 00:00:00
abstract::Bardet-Biedl syndrome (BBS) is a rare pediatric ciliopathy characterized by marked clinical variability and extensive genetic heterogeneity. Typical diagnosis of BBS is secured at a median of 9 years of age, and sometimes well into adolescence. Here, we report a patient in whom prenatal detection of increased nuchal f...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12022
更新日期:2013-06-01 00:00:00
abstract::Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations but also the severity of phenotype, symptom burden, and the risk of complications, such as heart failure and sudden death. The p...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.13027
更新日期:2018-01-01 00:00:00
abstract::A family is reported with an autosomal dominant inherited syndrome presenting some of the typical features of the tricho-rhino-phalangeal syndrome type II (TRP II) or Langer-Giedion syndrome. The critical region for the expression of the syndrome seems to be at band 8q24.1. In the affected members of the family report...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb02045.x
更新日期:1985-06-01 00:00:00
abstract::Low density lipoprotein (LDL) receptor activity, measured as 125I-LDL association and degradation at 37 degrees C, was determined in cultured fibroblasts from involved as well as uninvolved skin obtained from 20 psoriasis patients. The same analyses were conducted in fibroblasts from two reference groups consisting of...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb01983.x
更新日期:1984-03-01 00:00:00
abstract::Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 different mutations of ZE...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2008.00997.x
更新日期:2008-06-01 00:00:00