Abstract:
AIM:To determine whether, following predictive genetic testing for familial adenomatous polyposis (FAP), children or adults receiving positive results experience clinically significant levels of anxiety or depression, and whether children receiving positive results experience higher levels of anxiety or depression than adults receiving positive results. DESIGN:Two studies, one cross sectional and one prospective. SAMPLE:208 unaffected subjects (148 adults and 60 children) at risk for FAP who have undergone genetic testing since 1990. MAIN MEASURES: DEPENDENT VARIABLES:anxiety, depression; independent variables: test results, demographic measures, psychological resources (optimism, self-esteem). RESULTS:Study 1. In children receiving positive results, mean scores for anxiety and depression were within the normal range. There was a trend for children receiving positive results to be more anxious and depressed than those receiving negative results. In adults, mean scores for anxiety were within the normal range for those receiving negative results, but were in the clinical range for those receiving positive results, with 43% (95% CI 23-65) of the latter having scores in this range. Regardless of test result, adults were more likely to be clinically anxious if they were low in optimism or self-esteem. Children receiving positive or negative results did not experience greater anxiety or depression than adults. Study 2. For children receiving a positive test result, mean scores for anxiety, depression, and self-esteem were unchanged over the year following the result, while mean anxiety scores decreased and self-esteem increased after receipt of a negative test result over the same period of time. CONCLUSION:Children, as a group, did not show clinically significant distress over the first year following predictive genetic testing. Adults were more likely to be clinically anxious if they received a positive result or were low in optimism or self-esteem, with interacting effects. The association between anxiety, self-esteem, and optimism suggests that counselling should be targeted, not only at those with positive test results, but also at those low in psychological resources.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Michie S,Bobrow M,Marteau TMdoi
10.1136/jmg.38.8.519keywords:
subject
Has Abstractpub_date
2001-08-01 00:00:00pages
519-26issue
8eissn
0022-2593issn
1468-6244journal_volume
38pub_type
杂志文章abstract:BACKGROUND:Following predictive testing for Huntington disease (HD), knowledge of one's carrier status may have consequences on disease onset. Our study aimed to address two questions. First, does knowledge of being a carrier of the pathological HD mutation trigger onset of the disease? Second, does this knowledge infl...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-104199
更新日期:2017-08-01 00:00:00
abstract::Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia)....
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.2.162
更新日期:1998-02-01 00:00:00
abstract:BACKGROUND:A recent genetic study in mice and humans revealed the modulatory effect of MC1R (melanocortin-1 receptor) gene variants on kappa-opioid receptor mediated analgesia. It is unclear whether this gene affects basal pain sensitivity or the efficacy of analgesics acting at the more clinically relevant mu-opioid r...
journal_title:Journal of medical genetics
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doi:10.1136/jmg.2004.027698
更新日期:2005-07-01 00:00:00
abstract:BACKGROUND:Spontaneous read-through of a premature termination codon (PTC) has so far not been observed in patients carrying nonsense mutations. This report describes a patient with junctional epidermolysis bullosa who was expected to die because of compound heterozygous nonsense mutations in the gene LAMA3 (R943X/R115...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2011.089615
更新日期:2011-09-01 00:00:00
abstract::By using the genetic linkage data between the facioscapulohumeral muscular dystrophy (FSHD) gene and 57 markers on various autosomes, we have constructed an exclusion map for this disorder. The maximum likelihood location of the FSHD gene and the percentage of the excluded areas on each chromosome are presented here. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.8.481
更新日期:1989-08-01 00:00:00
abstract:BACKGROUND:There are few empirical data to inform the debate surrounding the use and regulation of direct-to-consumer (DTC) genome-wide disease risk tests. This study aimed to determine the long term psychological, behavioural, and clinical impacts of genomic risk testing for common disease. METHODS:The Scripps Genomi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101207
更新日期:2013-06-01 00:00:00
abstract::A patient with a typical Down syndrome (DS) phenotype and a normal karyotype was studied by FISH. Using painting probes, we found that the patient had partial trisomy of chromosome 21 owing to an unbalanced translocation t(15;21) (q26; q22.1) of paternal origin. To correlate genotype with phenotype as accurately as po...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.1.50
更新日期:1997-01-01 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::The mean paternal age at birth of 80 presumed mutant cases of dominant osteogenesis imperfecta (OI) was significantly higher than that of population controls and remained so after adjusting for maternal age. There was also an increase in mean maternal age (not significant) which disappeared after adjusting for paterna...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.3.227
更新日期:1986-06-01 00:00:00
abstract::We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the co...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
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更新日期:1994-09-01 00:00:00
abstract::Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the course of the disease...
journal_title:Journal of medical genetics
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doi:10.1136/jmg.30.3.218
更新日期:1993-03-01 00:00:00
abstract:BACKGROUND:The non-POU domain containing octamer-binding gene (NONO) is located on chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Loss-of-function variants in NONO have...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-104039
更新日期:2017-01-01 00:00:00
abstract::A total of 102 families with Duchenne muscular dystrophy has been studied with linked DNA polymorphisms as an aid to estimating carrier risks for female relatives. Early work using probes RC8, L1.28, and pXUT23 gave very little clinically useful information because of the high recombination rates between these probes ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.6.581
更新日期:1986-12-01 00:00:00
abstract::A case of true hermaphroditism is reported in which a 46,XY karyotype was associated with a testis and an ovotestis. The dual presence of a Fallopian tube and a vas deferens on the side of the ovotestis is documented as a previously unreported finding. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.3.206
更新日期:1988-03-01 00:00:00
abstract::This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.4.260
更新日期:1988-04-01 00:00:00
abstract::Four studies reported an increasing incidence of pyloric stenosis during the late 1970s from geographically diverse areas of the United Kingdom. It was suggested that the increased incidence might be related to changes in infant feeding practices. We used data from the Metropolitan Atlanta Congenital Defects Program, ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.8.482
更新日期:1987-08-01 00:00:00
abstract::A 5 day old male with bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes is described. There have been two case reports with similar clinical manifestations but associated with interstitial deletion of 14q (q22q23). We propose that either our patient represents a...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.12.960
更新日期:1994-12-01 00:00:00
abstract::A rapid PCR based assay was used to ascertain the presence of maternal cell contamination (MCC) in amniotic fluid cell cultures and to exclude MCC in cases where cytogenetic analysis was possible only from one primary cell culture. Six 6-carboxyfluorescein (FAM) and three 6-carboxyfluorescein hexachloride (HEX) labell...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.1.61
更新日期:1995-01-01 00:00:00
abstract:INTRODUCTION:Medullary cystic kidney disease 2 (MCKD2) and familial juvenile hyperuricaemic nephropathy (FJHN) are both autosomal dominant renal diseases characterised by juvenile onset of hyperuricaemia, gout, and progressive renal failure. Clinical features of both conditions vary in presence and severity. Often defi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.39.12.882
更新日期:2002-12-01 00:00:00
abstract::In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short phi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1990-03-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:2010-10-01 00:00:00
abstract:BACKGROUND:Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathwa...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101016
更新日期:2012-11-01 00:00:00
abstract:BACKGROUND:Four genetic causes of isolated congenital central hypothyroidism (CeH) have been identified, but many cases remain unexplained. We hypothesised the existence of other genetic causes of CeH with a Mendelian inheritance pattern. METHODS:We performed exome sequencing in two families with unexplained isolated ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-105113
更新日期:2018-10-01 00:00:00
abstract::An estimated 15-50% of the population experiences pain at any given time, at great personal and societal cost. Pain is the most common reason patients seek medical attention, and there is a high degree of individual variability in reporting the incidence and severity of symptoms. Research suggests that pain sensitivit...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2011-100386
更新日期:2012-01-01 00:00:00
abstract::21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene. This 3.5 kb gene and a highly related CYP21P pseudogene reside on tandemly duplicated 30 kb segments of DNA in the class III HLA region, and the great majority of pathogenic mutations result fr...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
abstract::We report a 13 year old boy with fragile X syndrome resulting from a de novo deletion of the FMR1 and FMR2 genes extending from (and including) DXS7536 proximally to FMR2 distally. The patient has severe developmental delay, epilepsy, and behavioural difficulties, including autistic features. He has epicanthic folds, ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-07-01 00:00:00
abstract::Partial monosomy 10q25.2----qter, detected in a newborn baby with multiple congenital abnormalities, was found to be derived from a balanced maternal translocation t(6;10)(q27;q25.2). The pedigree of six generations of the family is presented. In an extensive cytogenetic study of this family, the chromosome complement...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.5.435
更新日期:1986-10-01 00:00:00
abstract:BACKGROUND:Limb-girdle muscular dystrophy type R1 (LGMDR1) can be caused by recessive CAPN3 mutations accounting for the majority of LGMD. To date, no systemic evaluation has been performed to analyse the detrimental and normal mutations on CAPN3 and its hotspots. METHODS:CAPN3 variants (n=112) from a total of 124 pat...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2020-107159
更新日期:2020-09-29 00:00:00
abstract::A new dicentric X isochromosome i(X)(pter to q2102 to pter) of similar size to a normal X is described in a girl with gonadal dysgenesis. In this non-mosaic case with an X short arm duplication, most of the stigmata associated with Turner's syndrome were absent. This structure was compared with that of six i(Xq) and t...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.4.278
更新日期:1979-08-01 00:00:00
abstract:BACKGROUND:Male infertility is a prevalent issue worldwide, mostly due to the impaired sperm motility. Multiple morphological abnormalities of the sperm flagella (MMAF) present aberrant spermatozoa with absent, short, coiled, bent and irregular-calibre flagella resulting in severely decreased motility. Previous studies...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106344
更新日期:2020-02-01 00:00:00