An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings.

abstract：:A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed. ...

journal_title：Journal of medical genetics

authors： Farag TI,al-Awadi SA,Marafie MJ,Bastaki L,al-Othman SA,Mohammed FM,AlSuliman IS,Murthy DS

更新日期：1993-01-01 00:00:00

abstract：BACKGROUND:The clinical phenotypes of females with fragile X full mutations vary drastically. Comparisons of discordant monozygotic twins provide opportunities to ascertain crucial factors that influence disease phenotype penetrance. OBJECTIVE:To identify crucial factors influencing the phenotypic expression of fragil...

journal_title：Journal of medical genetics

authors： Huang W,Luo S,Ou J,Zhu F,Xia Y,Xue J,Pan Q,Wu L,Duan R

更新日期：2014-03-01 00:00:00

abstract：:Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome associated with a characteristic pattern of visceromegaly and predisposition to childhood tumours. BWS is a genetically heterogeneous disorder; most cases are sporadic but approximately 15% are familial and a small number of BWS patients have cytoge...

journal_title：Journal of medical genetics

authors： Catchpoole D,Lam WW,Valler D,Temple IK,Joyce JA,Reik W,Schofield PN,Maher ER

更新日期：1997-05-01 00:00:00

abstract：:The long-term decline in the incidence of the neural tube malformations, anencephaly and spina bifida (ASB), ended in the mid-1950's in New York State. Since that time, the rate of these birth defects has remained between 1 and 1.5/1000 births. In this low incidence population, we tested the basic tenets which support...

journal_title：Journal of medical genetics

authors： Janerich DT,Piper J

更新日期：1978-04-01 00:00:00

abstract：:Favism is a severe, acute haemolytic anaemia which occurs in about 20% of G6PD deficient subjects after ingestion of fava beans. Since not all G6PD deficient subjects are sensitive to fava beans, the possibility has been suggested that extra erythrocytic factors may play an important role in the susceptibility to haem...

journal_title：Journal of medical genetics

authors： Mareni C,Repetto L,Forteleoni G,Meloni T,Gaetani GF

更新日期：1984-08-01 00:00:00

abstract：:Sex linked recessive deafness is a rare cause of male genetic deafness, estimated to account for 6.2% of male genetic deafness in 1966. A male excess was found in the deaf population of Ireland in 1851. Reevaluation of this survey of 1851 confirms sex linked deafness as a factor in the disproportionate number of deaf ...

journal_title：Journal of medical genetics

authors： Reardon W

更新日期：1990-06-01 00:00:00

abstract：BACKGROUND:Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the en...

journal_title：Journal of medical genetics

authors： Rouzier C,Le Guédard-Méreuze S,Fragaki K,Serre V,Miro J,Tuffery-Giraud S,Chaussenot A,Bannwarth S,Caruba C,Ostergaard E,Pellissier JF,Richelme C,Espil C,Chabrol B,Paquis-Flucklinger V

更新日期：2010-10-01 00:00:00

abstract：:We describe a case of pycnodysostosis with porencephaly and suggest an explanation for the porencephaly by a mechanism of imbalance between brain growth and its vascular supply and a normal but unopposed cerebrospinal fluid pressure. ...

journal_title：Journal of medical genetics

authors： Figueiredo J,Reis A,Vaz R,Leáo M,Cruz C

更新日期：1989-12-01 00:00:00

abstract：:Intelligence levels and intelligence profiles were investigated in 52 members of a large family with the fragile X syndrome. The mental abilities were evaluated by the three Wechsler intelligence tests (WAIS, WISC-R, and WPPSI). Chromosomal and psychological data were then compared. In 22 non-retarded fra(X) negative ...

journal_title：Journal of medical genetics

authors： Veenema H,Veenema T,Geraedts JP

更新日期：1987-01-01 00:00:00

abstract：BACKGROUND:Mitochondrial DNA (mtDNA) disorders have a high clinical variability, mainly explained by variation of the mutant load across tissues. The high recurrence risk of these serious diseases commonly results in requests from at-risk couples for prenatal diagnosis (PND), based on determination of the mutant load o...

journal_title：Journal of medical genetics

authors： Vachin P,Adda-Herzog E,Chalouhi G,Elie C,Rio M,Rondeau S,Gigarel N,Jabot Hanin F,Monnot S,Borghese R,Bengoa J,Ville Y,Rotig A,Munnich A,Bonnefont JP,Steffann J

更新日期：2018-02-01 00:00:00

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：:MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been reported. All patients have typical dysmorphic features in association with severe intellectual disability, and nearly all have microcephaly and seizures. Congenital anomalies, including Hirsc...

journal_title：Journal of medical genetics

authors： Mowat DR,Wilson MJ,Goossens M

更新日期：2003-05-01 00:00:00

abstract：:Bazex-Dupre-Christol syndrome (BDCS) is an X linked dominant disorder of the hair follicle characterised by follicular atrophoderma, multiple basal cell carcinomas, hypotrichosis, milia, and localised hypohidrosis. Follicular atrophoderma (FA) are follicular funnel shaped depressions, "ice pick marks", seen most commo...

journal_title：Journal of medical genetics

authors： Kidd A,Carson L,Gregory DW,de Silva D,Holmes J,Dean JC,Haites N

更新日期：1996-06-01 00:00:00

abstract：BACKGROUND:Sedaghatian-type spondylometaphyseal dysplasia (SSMD) is a neonatal lethal form of spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. As part of the FORGE Canada Con...

journal_title：Journal of medical genetics

authors： Smith AC,Mears AJ,Bunker R,Ahmed A,MacKenzie M,Schwartzentruber JA,Beaulieu CL,Ferretti E,FORGE Canada Consortium.,Majewski J,Bulman DE,Celik FC,Boycott KM,Graham GE

更新日期：2014-07-01 00:00:00

abstract：:Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, ...

journal_title：Journal of medical genetics

authors： Mundlos S

更新日期：1999-03-01 00:00:00

abstract：:Cytogenetic analysis, fluorescent in situ hybridisation (FISH), and molecular amplification have been used to characterise the transfer of Yp fragments to Xp22.3 in six XX males. PCR amplification of the genes SRY, RPS4Y, ZFY, AMELY, KALY, and DAZ and of several other markers along the Y chromosome short and long arms...

journal_title：Journal of medical genetics

authors： Margarit E,Soler A,Carrió A,Oliva R,Costa D,Vendrell T,Rosell J,Ballesta F

更新日期：1998-09-01 00:00:00

abstract：:This report concerns two families in which the index patients are sporadic cases of a benign form of muscular dystrophy. In both families the sisters of the patients have married a close relative. The respective risks for a child of these consanguineous marriages being affected with either X linked Becker muscular dys...

journal_title：Journal of medical genetics

authors： Wolff G,Müller CR,Grimm T

更新日期：1989-05-01 00:00:00

abstract：:Four cases of unilateral giant breasts from two unrelated families are described. Three of the patients were managed surgically. It is speculated from a review of available published reports that this condition may be genetic with an autosomal dominant mode of inheritance. ...

journal_title：Journal of medical genetics

authors： Badejo OA

更新日期：1984-04-01 00:00:00

abstract：:A majority of cystic fibrosis (CF) genes (70 to 75%) share a single mutation, but the remaining 25 to 30% of defects are accounted for by more than 20 different mutations. One of the less frequent mutations, G551D, has been identified in the CF genes of two sibs and one unrelated adult patient. The adult patient also ...

journal_title：Journal of medical genetics

authors： Curtis A,Nelson R,Porteous M,Burn J,Bhattacharya SS

更新日期：1991-01-01 00:00:00

abstract：:A family is described in which the mother's four pregnancies resulted in one spontaneous abortion, one healthy boy, and a male and female sib with developmental delay and multiple minor dysmorphic features. Chromosome analysis showed a large pericentric inversion of chromosome 10, involving the region between bands p1...

journal_title：Journal of medical genetics

authors： Roberts P,Williams J,Sills MA

更新日期：1989-07-01 00:00:00

abstract：BACKGROUND:Data on the long-term motor outcomes of genome-wide association study (GWAS)-linked Parkinson disease (PD) carriers are useful for clinical management. OBJECTIVES:To characterise the association between GWAS-linked PARK16 gene variant and disease progression in PD over a 9-year time frame. METHODS:Over a 9...

journal_title：Journal of medical genetics

authors： Deng X,Xiao B,Allen JC,Ng E,Foo JN,Lo YL,Tan LCS,Tan EK

更新日期：2019-11-01 00:00:00

abstract：:A review of the data supports the suggestion of Knox (1974) that the sex ratio and incidence of anencephalics vary together within populations, as they are known to do between populations. There seems some doubts, though, whether Knox was correct in hypothesising that the sex ratio of anencephalics varies with their i...

journal_title：Journal of medical genetics

authors： James WH

更新日期：1979-04-01 00:00:00

abstract：:Disease associated balanced chromosomal rearrangements (DBCRs), which truncate, delete, or otherwise inactivate specific genes, have been instrumental for positional cloning of many disease genes. A network of cytogenetic laboratories, Mendelian Cytogenetics Network (MCN), has been established to facilitate the identi...

journal_title：Journal of medical genetics

authors： Bugge M,Bruun-Petersen G,Brøndum-Nielsen K,Friedrich U,Hansen J,Jensen G,Jensen PK,Kristoffersson U,Lundsteen C,Niebuhr E,Rasmussen KR,Rasmussen K,Tommerup N

更新日期：2000-11-01 00:00:00

abstract：:Data from 98 patients with hereditary haemorrhagic telangiectasia (HHT) are presented. All were symptomatic by 40 years of age and 62% by 16 years. Nose bleeding was the first symptom of disease in 90% of cases with mucocutaneous telangiectases appearing 5 to 20 years later. Complications of HHT are discussed and an a...

journal_title：Journal of medical genetics

authors： Porteous ME,Burn J,Proctor SJ

更新日期：1992-08-01 00:00:00

abstract：:Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this...

journal_title：Journal of medical genetics

authors： Begeer JH,Scholte FA,van Essen AJ

更新日期：1991-12-01 00:00:00

abstract：:The main purpose of this study was to see if the offspring of surviving neuroblastoma, ganglioneuroblastoma, or ganglioneuroma patients have themselves a risk for developing tumours. No such risk was found. There was a total of 45 liveborn children who were all healthy. These children have passed through about 37 life...

journal_title：Journal of medical genetics

authors： Bundey S,Evans K

更新日期：1982-02-01 00:00:00

abstract：:Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in youn...

journal_title：Journal of medical genetics

authors： Hanssen AM,Fryns JP

更新日期：1995-02-01 00:00:00

abstract：BACKGROUND:A variety of abnormalities have been demonstrated at chromosome 11p15 in individuals with overgrowth and growth retardation. The identification of these abnormalities is clinically important but often technically difficult. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is a ...

journal_title：Journal of medical genetics

authors： Scott RH,Douglas J,Baskcomb L,Nygren AO,Birch JM,Cole TR,Cormier-Daire V,Eastwood DM,Garcia-Minaur S,Lupunzina P,Tatton-Brown K,Bliek J,Maher ER,Rahman N

更新日期：2008-02-01 00:00:00

abstract：:A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported. The possible association of this gastrointestinal malformation with the KW syndrome is discussed. ...

journal_title：Journal of medical genetics

authors： Nutman J,Nissenkorn I,Varsano I,Mimouni M,Goodman RM

更新日期：1981-06-01 00:00:00

abstract：:Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical sequencing has increased dramatically; and the range of clinical professionals involved in the proce...

journal_title：Journal of medical genetics

authors： Garrett A,Callaway A,Durkie M,Cubuk C,Alikian M,Burghel GJ,Robinson R,Izatt L,Talukdar S,Side L,Cranston T,Palmer-Smith S,Baralle D,Berry IR,Drummond J,Wallace AJ,Norbury G,Eccles DM,Ellard S,Lalloo F,Evans DG,W

更新日期：2020-12-01 00:00:00