Prenatal diagnosis of genetic disorders.

abstract：BACKGROUND:Graves' disease is a female preponderant autoimmune illness and the contribution of the X chromosome to its risk has long been appreciated. However, no X-linked susceptibility loci have been indentified from recent genome-wide association studies (GWAS). METHODS:We re-examined the X chromosome data from our...

journal_title：Journal of medical genetics

authors： Chu X,Shen M,Xie F,Miao XJ,Shou WH,Liu L,Yang PP,Bai YN,Zhang KY,Yang L,Hua Q,Liu WD,Dong Y,Wang HF,Shi JX,Wang Y,Song HD,Chen SJ,Chen Z,Huang W

更新日期：2013-07-01 00:00:00

abstract：:We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ...

journal_title：Journal of medical genetics

authors： Kanjilal D,Basir MA,Verma RS,Rajegowda BK,Lala R,Nagaraj A

更新日期：1992-09-01 00:00:00

abstract：:Results of genealogical, DNA, and clinical findings in 41 families with 235 patients affected with myotonic dystrophy (DM) led to the following observations. (1) The relative proportion of affected patients among blacks is apparently lower than among whites or orientals. (2) A significant excess of males was observed....

journal_title：Journal of medical genetics

authors： Passos-Bueno MR,Cerqueira A,Vainzof M,Marie SK,Zatz M

更新日期：1995-01-01 00:00:00

abstract：:Studies of migraine with aura (MA) have shown familial aggregation of the disorder, which cannot be explained by simple mendelian inheritance. The interest in a genetic basis for the disorder has increased after identification of three genetic loci for familial hemiplegic migraine (FHM), which is a rare subtype of MA ...

journal_title：Journal of medical genetics

authors： Ulrich V,Gervil M,Kyvik KO,Olesen J,Russell MB

更新日期：1999-03-01 00:00:00

abstract：OBJECTIVES:Current technologies for delivering gene testing are labour-intensive and expensive. Over the last 3 years, new high-throughput DNA sequencing techniques (next generation sequencing; NGS), with the capability to analyse multiple genes or entire genomes, have been rapidly adopted into research. This study exa...

journal_title：Journal of medical genetics

authors： O'Sullivan J,Mullaney BG,Bhaskar SS,Dickerson JE,Hall G,O'Grady A,Webster A,Ramsden SC,Black GC

更新日期：2012-05-01 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：BACKGROUND:Clefts of the lip and palate are common birth defects, affecting approximately 1 in 700 births worldwide. The aetiology of clefting is complex, with multiple genetic and environmental influences. METHODS:Genotype based linkage disequilibrium analysis was conducted using the family based association test (FB...

journal_title：Journal of medical genetics

authors： Warrington A,Vieira AR,Christensen K,Orioli IM,Castilla EE,Romitti PA,Murray JC

更新日期：2006-06-01 00:00:00

abstract：:Huntington's disease (HD) is an autosomal dominant condition with almost complete penetrance. The age of onset of the symptoms, however, is variable and depends on the parental origin of the gene. A high proportion of early onset cases inherit the HD gene from their father, whereas a considerable proportion of late on...

journal_title：Journal of medical genetics

authors： Reik W

更新日期：1988-12-01 00:00:00

abstract：:A 13-year-old girl sought medical advice, saying that for two years it had been increasingly difficult for her to extend her little finger. An examination revealed that all her fingers, with the exception of her thumbs, had no interphalangeal fold. Her mother had less pronounced signs of the same type. This abnormalit...

journal_title：Journal of medical genetics

authors： Lambert D,Nivelon-Chevallier A,Chapuis JL

更新日期：1977-12-01 00:00:00

abstract：:Deficiency of iduronate-2-sulphatase (IDS) results in the X linked recessive lysosomal storage disorder Hunter syndrome. Determination of carrier status in families affected by this disorder has been performed using a variety of enzymatic tests. None of these tests has proved to be 100% effective at identifying carrie...

journal_title：Journal of medical genetics

authors： Timms KM,Edwards FJ,Belmont JW,Yates JR,Gibbs RA

更新日期：1998-08-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) is a primary disorder of haem biosynthesis that is chemically characterised by raised urinary porphobilinogen (PBG). A defect in the biochemical pathway at the step of PBG conversion to uroporphyrinogen has been shown to be a result of a partial deficiency of the enzyme uroporphyrino...

journal_title：Journal of medical genetics

authors： Lamon JM,Frykholm BC,Tschudy DP

更新日期：1979-04-01 00:00:00

abstract：:Trehalase activity was determined in serum, liver, and kidney in alloxan treated Swiss mice and in homozygous (Ob/Ob, Db/Db) and heterozygous (Ob/+, Db/m+) diabetic mice. Both alloxan and genetic diabetic mice exhibited a large increase in serum and liver trehalase activity with no change in kidney trehalase activity....

journal_title：Journal of medical genetics

authors： Baumann FC,Boizard-Callais F,Labat-Robert J

更新日期：1981-12-01 00:00:00

abstract：:Angelman syndrome (AS) and Prader-Willi syndrome (PWS) have become the classical examples of genomic imprinting in man, as completely different phenotypes are generated by the absence of maternal (AS) or paternal (PWS) contributions to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. A...

journal_title：Journal of medical genetics

authors： Meijers-Heijboer EJ,Sandkuijl LA,Brunner HG,Smeets HJ,Hoogeboom AJ,Deelen WH,van Hemel JO,Nelen MR,Smeets DF,Niermeijer MF

更新日期：1992-12-01 00:00:00

abstract：BACKGROUND:Heart-hand syndromes are a heterogeneous group of genetic disorders characterised by the association of congenital cardiac disease and limb deformities. Laminopathies are a group of diseases caused by mutations in the LMNA gene encoding A-type lamins. RESULTS:We report a new LMNA mutation (c.1609-12T>G, IVS...

journal_title：Journal of medical genetics

authors： Renou L,Stora S,Yaou RB,Volk M,Sinkovec M,Demay L,Richard P,Peterlin B,Bonne G

更新日期：2008-10-01 00:00:00

abstract：:The FKHL7 gene has been implicated in the pathogenesis of glaucoma/autosomal dominant iridogoniodysgenesis (IGDA) (IRID1). This has been supported by mutations in some glaucoma and IGDA patients and the development of anterior eye chamber anomalies in patients with 6p deletions affecting the 6p25 region. We report a c...

journal_title：Journal of medical genetics

authors： Davies AF,Mirza G,Flinter F,Ragoussis J

更新日期：1999-09-01 00:00:00

abstract：BACKGROUND:Tibial pseudarthrosis is associated with neurofibromatosis type 1 (NF1) and there is wide clinical variability of the tibial dysplasia in NF1, suggesting the possibility of genetic modifiers. Double inactivation of NF1 is postulated to be necessary for the development of tibial pseudarthrosis, but tissue or ...

journal_title：Journal of medical genetics

authors： Sant DW,Margraf RL,Stevenson DA,Grossmann AH,Viskochil DH,Hanson H,Everitt MD,Rios JJ,Elefteriou F,Hennessey T,Mao R

更新日期：2015-04-01 00:00:00

abstract：:The impact of information-guidance type of genetic counseling was evaluated for the family planning of 2082 consultands. The understanding of the risks, parental decision, and the number of induced and spontaneous abortions were evaluated by the use of questionnaires. The stillbirths, livebirths, infant deaths, and ba...

journal_title：Journal of medical genetics

authors： Czeizel A,Métneki J,Osztovics M

更新日期：1981-04-01 00:00:00

abstract：:A cytogenetic survey of the complete population of mentally subnormal in the North-East of Scotland has been undertaken. A register for the mentally subnormal within the region already existed, and all persons recorded, whether they resided at home or in subnormality hospitals or other institutional care, were include...

journal_title：Journal of medical genetics

authors： Speed RM,Johnston AW,Evans HJ

更新日期：1976-08-01 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

authors： Zhong H,Zheng Y,Zhao Z,Lin P,Xi J,Zhu W,Lin J,Lu J,Yu M,Zhang W,Lv H,Yan C,Hu J,Wang Z,Lu J,Zhao C,Yuan Y,Luo S

更新日期：2020-09-29 00:00:00

abstract：BACKGROUND:Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct...

journal_title：Journal of medical genetics

authors： Ballarati L,Rossi E,Bonati MT,Gimelli S,Maraschio P,Finelli P,Giglio S,Lapi E,Bedeschi MF,Guerneri S,Arrigo G,Patricelli MG,Mattina T,Guzzardi O,Pecile V,Police A,Scarano G,Larizza L,Zuffardi O,Giardino D

更新日期：2007-01-01 00:00:00

abstract：:The chromosomes of a male patient who suffers from Duchenne muscular dystrophy (DMD) with a molecular deletion were examined with an improved high resolution R type replication banding technique. High resolution cytogenetic analysis of the proband revealed a deletion of the Xp21.13 subband. His healthy mother was hete...

journal_title：Journal of medical genetics

authors： Werner W,Spiegler AW

更新日期：1988-06-01 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

authors： Bloss CS,Wineinger NE,Darst BF,Schork NJ,Topol EJ

更新日期：2013-06-01 00:00:00

abstract：:Previous linkage studies in tuberous sclerosis have implicated three disease determining loci at 9q, 11q, and 12q. We have collated phenotypic and genotypic data on 1622 members of 128 families with tuberous sclerosis in order to evaluate simultaneously the evidence for these putative loci. Affection status in the fam...

journal_title：Journal of medical genetics

authors： Sampson JR,Janssen LA,Sandkuijl LA

更新日期：1992-12-01 00:00:00

abstract：:A 2-year-old boy with mental and growth retardation is presented; he has a 46,XY,r(10)(p15q26) chromosome complement. Five previously reported cases of ring chromosome 10 were reviewed and compared with the present case in an attempt to delineate a clinical syndrome. Since the first description, identified by Giemsa b...

journal_title：Journal of medical genetics

authors： Nakai H,Adachi M,Katsushima N,Yamazaki N,Sakamoto M,Tada K

更新日期：1983-04-01 00:00:00

abstract：:Twenty-five affected women of reproductive age known to the North West Regional Genetics Family Register (NWRGFR) were interviewed. A semistructured questionnaire, completed by the interviewer, was used to assess understanding and experience of the clinical and genetic aspects of myotonic dystrophy (MD) and attitudes ...

journal_title：Journal of medical genetics

authors： Faulkner CL,Kingston HM

更新日期：1998-12-01 00:00:00

abstract：:The use of genome wide single nucleotide polymorphism (SNP) arrays for high resolution molecular cytogenetic analysis using a combination of quantitative and genotype analysis is well established. This study demonstrates that by Mendelian analysis of the SNP genotypes of the parents and a sibling or other appropriate ...

journal_title：Journal of medical genetics

authors： Handyside AH,Harton GL,Mariani B,Thornhill AR,Affara N,Shaw MA,Griffin DK

更新日期：2010-10-01 00:00:00

abstract：:A family with an insertional type of chromosome rearrangement involving chromosomes 7 and 13 is reported. An interstitial deletion of a segment of chromosome 7 (7q32 leads to 34) had been inserted into the long arm of chromosome 13 at breakpoint q32. Segregation of this chromosome rearrangement gave rise to three subj...

journal_title：Journal of medical genetics

authors： Nielsen KB,Egede F,Mouridsen I,Mohr J

更新日期：1979-12-01 00:00:00

abstract：BACKGROUND:Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC). OBJECTIVE:The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1 disease-causing mutation, TSC2 disease-causing mutation, or no mutation identified (NM...

journal_title：Journal of medical genetics

authors： Muzykewicz DA,Sharma A,Muse V,Numis AL,Rajagopal J,Thiele EA

更新日期：2009-07-01 00:00:00

abstract：:Von Hippel-Lindau disease is an autosomal dominantly inherited familial cancer syndrome predisposing to retinal and central nervous system haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. VHL disease shows variable expression and interfamilial differences in predisposition to phaeochromocytoma. In a pr...

journal_title：Journal of medical genetics

authors： Maher ER,Webster AR,Richards FM,Green JS,Crossey PA,Payne SJ,Moore AT

更新日期：1996-04-01 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

authors： Daniel A,Saville T,Southall DB

更新日期：1979-08-01 00:00:00