Genetic study of congenital heart defects in Northern Ireland (1974-1978).

abstract：PURPOSE:Previous reports cite high costs of clinical cancer genetic testing as main barriers to patient's willingness to test. We report findings of a pilot study that evaluates how different subsidy schemes impact genetic testing uptake and total cost of cancer management. METHODS:We included all patients who attende...

journal_title：Journal of medical genetics

authors： Li ST,Yuen J,Zhou K,Binte Ishak ND,Chen Y,Met-Domestici M,Chan SH,Tan YP,Allen JC Jr,Lim ST,Soo KC,Ngeow J

更新日期：2017-04-01 00:00:00

abstract：:A large body of data on segregating families is used to generate specific recurrence risks conditional on sex and birth order for the best-fitting model of polygenes plus maternal effect. The method is general for diseases of complex inheritance, and lies within the competence of any serious genetic clinic. The questi...

journal_title：Journal of medical genetics

authors： Lalouel JM,Morton NE,MacLean CJ,Jackson J

更新日期：1977-12-01 00:00:00

abstract：PURPOSE AND SCOPE:The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been...

journal_title：Journal of medical genetics

authors： Boycott K,Hartley T,Adam S,Bernier F,Chong K,Fernandez BA,Friedman JM,Geraghty MT,Hume S,Knoppers BM,Laberge AM,Majewski J,Mendoza-Londono R,Meyn MS,Michaud JL,Nelson TN,Richer J,Sadikovic B,Skidmore DL,Stockley T,

更新日期：2015-07-01 00:00:00

abstract：:A mother with apparently balanced translocation between chromosomes 4 and 22 gave birth to two children (sib 1 and twin A) with 45,XX,der(4)t(4;22) (p16.3;q11.2)mat,-22 and 45,XY,der(4)t(4; 22(p16.3;q11.2)mat,-22 karyotypes. The mother was a slow learner and required special education. The imbalance in the sibs arose ...

journal_title：Journal of medical genetics

authors： Reddy KS,Sulcova V,Siassi B

更新日期：1996-10-01 00:00:00

abstract：:A male infant, partially trisomic for a small segment of chromosomes 6 and 22 resulting from a maternal translocation, is described. Comparison of the phenotypic features of the proband with those noted in partial 6p and partial 22 trisomies revealed some common features found in both chromosome anomalies but especial...

journal_title：Journal of medical genetics

authors： Scarbrough PR,Carroll AJ,Finley SC,Hamerick K

更新日期：1986-04-01 00:00:00

abstract：:Girls and women with Turner syndrome are at risk for catastrophic aortic dissection and rupture, but the clinical profile for those at risk is not well described. In addition to reporting two new cases, we performed an electronic search to identify all reported cases of aortic dissection associated with Turner syndrom...

journal_title：Journal of medical genetics

authors： Carlson M,Silberbach M

更新日期：2007-12-01 00:00:00

abstract：BACKGROUND:Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes. OBJECTIVE:To identify the causative genetic defect in two sisters presenting with lethal i...

journal_title：Journal of medical genetics

authors： Spiegel R,Saada A,Flannery PJ,Burté F,Soiferman D,Khayat M,Eisner V,Vladovski E,Taylor RW,Bindoff LA,Shaag A,Mandel H,Schuler-Furman O,Shalev SA,Elpeleg O,Yu-Wai-Man P

更新日期：2016-02-01 00:00:00

abstract：BACKGROUND:Alport syndrome is a clinically heterogeneous, progressive nephropathy caused by mutations in collagen IV genes, namely COL4A3 and COL4A4 on chromosome 2 and COL4A5 on chromosome X. The wide phenotypic variability and the presence of incomplete penetrance suggest that a simple Mendelian model cannot complete...

journal_title：Journal of medical genetics

authors： Mencarelli MA,Heidet L,Storey H,van Geel M,Knebelmann B,Fallerini C,Miglietti N,Antonucci MF,Cetta F,Sayer JA,van den Wijngaard A,Yau S,Mari F,Bruttini M,Ariani F,Dahan K,Smeets B,Antignac C,Flinter F,Renieri A

更新日期：2015-03-01 00:00:00

abstract：BACKGROUND:Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta (OI) disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. OBJECTIVES:Here, we report a 3-year ol...

journal_title：Journal of medical genetics

authors： Balasubramanian M,Padidela R,Pollitt RC,Bishop NJ,Mughal MZ,Offiah AC,Wagner BE,McCaughey J,Stephens DJ

更新日期：2018-03-01 00:00:00

abstract：:Our primary objective was to estimate, by one year and five year intervals, maternal age specific risk rates for Down syndrome among whites and among other races from two different populations, metropolitan Atlanta and south west Ohio, using live birth and prenatally diagnosed cases ascertained during 1970-1989. The f...

journal_title：Journal of medical genetics

authors： Huether CA,Ivanovich J,Goodwin BS,Krivchenia EL,Hertzberg VS,Edmonds LD,May DS,Priest JH

更新日期：1998-06-01 00:00:00

abstract：:The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers. ...

journal_title：Journal of medical genetics

authors： Dalgleish R,Hawkins JR,Keston M

更新日期：1987-03-01 00:00:00

abstract：:The frequency of chromosome aberrations in the lymphocytes of three established heterozygotes for the Bloom's syndrome gene (ages 67, 57, 46) was compared to that in controls (ages 68, 67, 61, 46, 34). The main part of the study was done on coded slides. No difference was found between the heterozygotes and the contro...

journal_title：Journal of medical genetics

authors： Kuhn EM,Therman E

更新日期：1979-06-01 00:00:00

abstract：:True isochromosomes for Xp probably do not exist in a liveborn. We describe a rare case of complete Xp duplication and retention of the inactivation centre at Xq13. Cytogenetically, it is described as a nonmosaic 46,X,psu idic(X)(q13). Complete duplication of Xpter-->Xq13 was confirmed by banded analysis and FISH prob...

journal_title：Journal of medical genetics

authors： Jalal SM,Dahl R,Erickson L,Zimmerman D,Lindor N

更新日期：1996-03-01 00:00:00

abstract：:Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type ...

journal_title：Journal of medical genetics

authors： Pieke Dahl S,Kimberling WJ,Gorin MB,Weston MD,Furman JM,Pikus A,Möller C

更新日期：1993-10-01 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

authors： Brewer CM,Lam WW,Hayward C,Grace E,Maher ER,FitzPatrick DR

更新日期：1998-02-01 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

authors： Pacho F,Zambruno G,Calabresi V,Kiritsi D,Schneider H

更新日期：2011-09-01 00:00:00

abstract：:An 18 month old girl with dysmorphic features, severe developmental delay, multiple strawberry naevi, and capillary naevi is described. No previous report of a similar association of features has been identified. ...

journal_title：Journal of medical genetics

authors： Upton CJ,Young ID

更新日期：1993-10-01 00:00:00

abstract：BACKGROUND:Heterozygous germline PMS2 variants are responsible for about 5% of Lynch syndrome (LS) but their prevalence is most likely underestimated because of complicated routine screening caused by highly homologous pseudogenes. Consequently, there is limited knowledge on the implication of the PMS2 gene in LS. MET...

journal_title：Journal of medical genetics

authors： Wang Q,Leclerc J,Bougeard G,Olschwang S,Vasseur S,Cassinari K,Boidin D,Lefol C,Naïbo P,Frébourg T,Buisine MP,Baert-Desurmont S,French Consortium of Oncogenetic laboratories for colorectal cancers, Unicancer Cancer Genetic Group (

更新日期：2020-07-01 00:00:00

abstract：:Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by tumour-like malformations (hamartomas) of the brain, skin, and other organs, often associated with seizures and learning disability. There is genetic heterogeneity with loci for TSC on chromosomes 9q34 (TSC1) and 16p13.3 (TSC2). The recently c...

journal_title：Journal of medical genetics

authors： Ali JB,Sepp T,Ward S,Green AJ,Yates JR

更新日期：1998-12-01 00:00:00

abstract：:We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the pati...

journal_title：Journal of medical genetics

authors： Ryan AK,Goodship JA,Wilson DI,Philip N,Levy A,Seidel H,Schuffenhauer S,Oechsler H,Belohradsky B,Prieur M,Aurias A,Raymond FL,Clayton-Smith J,Hatchwell E,McKeown C,Beemer FA,Dallapiccola B,Novelli G,Hurst JA,Ignatius

更新日期：1997-10-01 00:00:00

abstract：:There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with...

journal_title：Journal of medical genetics

authors： Farrar GJ,Geraghty MT,Moloney JM,McConnell DJ,Humphries P

更新日期：1988-04-01 00:00:00

abstract：:Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and cleft palate. In the current investigation, linkage analysis has been used to make first trimester diagnostic predictions in a pregnancy at high risk of producing an affected chi...

journal_title：Journal of medical genetics

authors： Edwards SJ,Fowlie A,Cust MP,Liu DT,Young ID,Dixon MJ

更新日期：1996-07-01 00:00:00

abstract：:A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot w...

journal_title：Journal of medical genetics

authors： Tse K,Temple IK,Baraitser M

更新日期：1990-12-01 00:00:00

abstract：BACKGROUND:The AZFc region on the human Y chromosome has been found to be functionally important in spermatogenesis. Complete AZFc deletion is one of the most frequent causes of male infertility and the roles of partial AZFc deletions (gr/gr and b2/b3 deletions) in spermatogenesis are controversial. METHODS:To further...

journal_title：Journal of medical genetics

authors： Zhang F,Lu C,Li Z,Xie P,Xia Y,Zhu X,Wu B,Cai X,Wang X,Qian J,Wang X,Jin L

更新日期：2007-07-01 00:00:00

abstract：:We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate...

journal_title：Journal of medical genetics

authors： Schrander-Stumpel CT,de Die-Smulders CE,Hennekam RC,Fryns JP,Bouckaert PX,Brouwer OF,da Costa JJ,Lommen EJ,Maaswinkel-Mooy PD

更新日期：1992-05-01 00:00:00

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...

journal_title：Journal of medical genetics

authors： Michie S,Bobrow M,Marteau TM

更新日期：2001-08-01 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

authors： Moore SJ,Strain L,Cole GF,Miedzybrodzka Z,Kelly KF,Dean JC

更新日期：1999-07-01 00:00:00

abstract：:Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders. We describe a patient with X linked hydrocephalus and Hirschsprung's disease (HSCR) with a novel mutation in the L1CAM gene. This is...

journal_title：Journal of medical genetics

authors： Okamoto N,Wada Y,Goto M

更新日期：1997-08-01 00:00:00

abstract：BACKGROUND:In 30-50% of patients with colorectal adenomatous polyposis, no germline mutation in the known genes APC, causing familial adenomatous polyposis, MUTYH, causing MUTYH-associated polyposis, or POLE or POLD1, causing polymerase-proofreading-associated polyposis can be identified, although a hereditary aetiolog...

journal_title：Journal of medical genetics

authors： Spier I,Drichel D,Kerick M,Kirfel J,Horpaopan S,Laner A,Holzapfel S,Peters S,Adam R,Zhao B,Becker T,Lifton RP,Perner S,Hoffmann P,Kristiansen G,Timmermann B,Nöthen MM,Holinski-Feder E,Schweiger MR,Aretz S

更新日期：2016-03-01 00:00:00

abstract：:The spontaneous and mitomycin C (MMC) induced sister chromatid exchange (SCE) frequencies were examined in five adults with myotonic dystrophy (MD). There was no significant difference in the spontaneous incidence of SCE between MD patients and controls. However, a significantly enhanced response to the induction of S...

journal_title：Journal of medical genetics

authors： Vijayalaxmi,Emery AE,Evans HJ

更新日期：1982-04-01 00:00:00