MECP2 mutations in males.

abstract：BACKGROUND:The SCN8A gene on chromosome 12q13 encodes the voltage gated sodium channel Na(v)1.6, which is widely expressed in neurons of the CNS and PNS. Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders. METHODS:We screened the 26 coding exons of SCN8A in 151 patients with inherit...

journal_title：Journal of medical genetics

authors： Trudeau MM,Dalton JC,Day JW,Ranum LP,Meisler MH

更新日期：2006-06-01 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：:DNA fingerprinting was performed to verify the pedigree structure of a family under investigation for an unusual case of beta thalassaemia. A higher than expected proportion of hypervariable bands was shared by the proband and his mother, leading to suspicion that the child had been the product of a consanguineous mat...

journal_title：Journal of medical genetics

authors： Wells RA,Wonke B,Thein SL

更新日期：1988-10-01 00:00:00

abstract：:A case of partial trisomy 6p is reported with a review of the various characteristics of this syndrome. ...

journal_title：Journal of medical genetics

authors： Côté GB,Papadakou-Lagoyanni S,Sbyrakis S

更新日期：1978-12-01 00:00:00

abstract：BACKGROUND:Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenaemia and afibrinogenaemia) or the quality of the circulating fibrinogen (dysfibrinogenaemia). Extensive allelic heterogeneity has been found for all three disorders: in congenital afibrinogenaemia >30 mutations, the maj...

journal_title：Journal of medical genetics

authors： Vu D,de Moerloose P,Batorova A,Lazur J,Palumbo L,Neerman-Arbez M

更新日期：2005-09-01 00:00:00

abstract：:An interstitial deletion of the region q22.1-->q22.3 of chromosome 14 is described in a child with bilateral anophthalmia, dysmorphic features including micrognathia, small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism. Interstitial delet...

journal_title：Journal of medical genetics

authors： Elliott J,Maltby EL,Reynolds B

更新日期：1993-03-01 00:00:00

abstract：:Chromosome analysis using conventional staining, G banding, and, after BUdR incorporation, two R banding methods, one using Hoechst and one acridine orange, were performed on lymphocytes from a pair of female monozygotic twins. The culture conditions were designed to show the presence of the fragile X (q27-28) which h...

journal_title：Journal of medical genetics

authors： Tuckerman E,Webb T,Bundey SE

更新日期：1985-04-01 00:00:00

abstract：:This report describes 7-month-old monozygotic twin female infants with GM1 gangliosidosis type I. In addition to the usual clinical and biochemical abnormalities generalized intracutaneous telangiectasis were present in both infants. ...

journal_title：Journal of medical genetics

authors： Ginsburg CM,Long CG

更新日期：1977-04-01 00:00:00

abstract：:A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which may be underdiagnosed. The important signs of this syndrome include a droopy, jowly face with a degree of malar hypoplasia and mandibular prognathism, lax, but non-hyperelastic skin, most m...

journal_title：Journal of medical genetics

authors： Hunter AG

更新日期：1988-12-01 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: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

authors： Heinen CA,de Vries EM,Alders M,Bikker H,Zwaveling-Soonawala N,van den Akker ELT,Bakker B,Hoorweg-Nijman G,Roelfsema F,Hennekam RC,Boelen A,van Trotsenburg ASP,Fliers E

更新日期：2018-10-01 00:00:00

abstract：:A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia. ...

journal_title：Journal of medical genetics

authors： Hersh JH,Yen FF,Peiper SC,Barch MJ,Yacoub OA,Voss DH,Roberts JL

更新日期：1995-04-01 00:00:00

abstract：:G band cytogenetic analysis often leads to the discovery of unbalanced karyotypes that require further characterisation by molecular cytogenetic studies. In particular, G band analysis usually does not show the chromosomal origin of small marker chromosomes or of a small amount of extra material detected on otherwise ...

journal_title：Journal of medical genetics

authors： Breen CJ,Barton L,Carey A,Dunlop A,Glancy M,Hall K,Hegarty AM,Khokhar MT,Power M,Ryan K,Green AJ,Stallings RL

更新日期：1999-07-01 00:00:00

abstract：:Complete ascertainment of adult onset limb-girdle muscular dystrophy in the Lothian Region of Scotland was attempted. Ten index cases were identified giving a prevalence of 1.3 per 100 000 (0.9 per 100 000 for cases where the diagnosis of muscular dystrophy was supported by both electromyographic and muscle biopsy fin...

journal_title：Journal of medical genetics

authors： Yates JR,Emery AE

更新日期：1985-08-01 00:00:00

abstract：:A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delay...

journal_title：Journal of medical genetics

authors： Thompson EM,Hill S,Leonard JV,Pembrey ME

更新日期：1987-04-01 00:00:00

abstract：:It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mut...

journal_title：Journal of medical genetics

authors： Sidransky E,Tayebi N,Stubblefield BK,Eliason W,Klineburgess A,Pizzolato GP,Cox JN,Porta J,Bottani A,DeLozier-Blanchet CD

更新日期：1996-02-01 00:00:00

abstract：:The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mecha...

journal_title：Journal of medical genetics

authors： Roth EF Jr,Schiliro G,Russo A,Musumeci S,Rachmilewitz E,Neske V,Nagel R

更新日期：1980-02-01 00:00:00

abstract：:Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function asso...

journal_title：Journal of medical genetics

authors： Meeks M,Walne A,Spiden S,Simpson H,Mussaffi-Georgy H,Hamam HD,Fehaid EL,Cheehab M,Al-Dabbagh M,Polak-Charcon S,Blau H,O'Rawe A,Mitchison HM,Gardiner RM,Chung E

更新日期：2000-04-01 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

authors： Ives E,Coffey R,Carter CO

更新日期：1980-04-01 00:00:00

abstract：:The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat. Two main types of mutation have been categorised. Clinical expression is associated with the presence of the full mutation, while subjects who carry only a premutation do not have mental retardation. Premutations have a high ris...

journal_title：Journal of medical genetics

authors： Heitz D,Devys D,Imbert G,Kretz C,Mandel JL

更新日期：1992-11-01 00:00:00

abstract：BACKGROUND:We report here clinical, cytogenetic and molecular data for a pair of monochorionic diamniotic twins with paternal isodisomy for chromosome 19. Both twins presented with dysmorphic features and global developmental delay. This represents, to our knowledge, the first individual human case of paternal uniparen...

journal_title：Journal of medical genetics

authors： Yeung KS,Ho MSP,Lee SL,Kan ASY,Chan KYK,Tang MHY,Mak CCY,Leung GKC,So PL,Pfundt R,Marshall CR,Scherer SW,Choufani S,Weksberg R,Hon-Yin Chung B

更新日期：2018-12-01 00:00:00

abstract：BACKGROUND:Early infantile epileptic encephalopathies usually manifest as severely impaired cognitive and motor development and often result in a devastating permanent global developmental delay and intellectual disability. A large set of genes has been implicated in the aetiology of this heterogeneous group of disorde...

journal_title：Journal of medical genetics

authors： Edvardson S,Oz S,Abulhijaa FA,Taher FB,Shaag A,Zenvirt S,Dascal N,Elpeleg O

更新日期：2013-02-01 00:00:00

abstract：:A study of mutation, biological fitness, and patterns of family building in Huntington's chorea has been carried out, based on a previously reported population study of the disorder in South Wales. No unequivocal new mutation was identified among 101 kindreds containing 418 affected persons, which supports the extreme...

journal_title：Journal of medical genetics

authors： Walker DA,Harper PS,Newcombe RG,Davies K

更新日期：1983-02-01 00:00:00

abstract：:A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells ...

journal_title：Journal of medical genetics

authors： Dulitzky F,Shabtal F,Zlotogora J,Halbrecht I,Elian E

更新日期：1981-12-01 00:00:00

abstract：BACKGROUND:Infertility affects approximately 15% of couples worldwide with male infertility being responsible for approximately 50% of cases. Although accumulating evidence demonstrates the critical role of the X chromosome in spermatogenesis during the last few decades, the expression patterns and potential impact of ...

journal_title：Journal of medical genetics

authors： Lu C,Zhang Y,Qin Y,Xu Q,Zhou R,Cui Y,Zhu Y,Zhang X,Zhang J,Wei X,Wang M,Hang B,Mao JH,Snijders AM,Liu M,Hu Z,Shen H,Zhou Z,Guo X,Wu X,Wang X,Xia Y

更新日期：2021-01-01 00:00:00

abstract：:PurposeThe purpose of this document is to provide guidance for the use of next-generation sequencing (NGS, also known as massively parallel sequencing or MPS) in Canadian clinical genetic laboratories for detection of genetic variants in genomic DNA and mitochondrial DNA for inherited disorders, as well as somatic var...

journal_title：Journal of medical genetics

authors： Hume S,Nelson TN,Speevak M,McCready E,Agatep R,Feilotter H,Parboosingh J,Stavropoulos DJ,Taylor S,Stockley TL,Canadian College of Medical Geneticists (CCMG).

更新日期：2019-12-01 00:00:00

abstract：BACKGROUND:Intellectual disability (ID) is one of the most common forms of disability worldwide, displaying a wide range of aetiologies and affecting nearly 2% of the global population. OBJECTIVE:To describe a novel autosomal recessive form of ID with strabismus and its underlying aetiology. MATERIALS AND METHODS:Aut...

journal_title：Journal of medical genetics

authors： Alazami AM,Hijazi H,Al-Dosari MS,Shaheen R,Hashem A,Aldahmesh MA,Mohamed JY,Kentab A,Salih MA,Awaji A,Masoodi TA,Alkuraya FS

更新日期：2013-07-01 00:00:00

abstract：BACKGROUND:Subtelomere fluorescence in situ hybridisation (FISH) analysis has increasingly been used as an adjunct to routine cytogenetic testing in order to detect small rearrangements. Previous reports have estimated an overall abnormality rate of 6%, with a range of 2-29% because of different inclusion criteria. ME...

journal_title：Journal of medical genetics

authors： Ravnan JB,Tepperberg JH,Papenhausen P,Lamb AN,Hedrick J,Eash D,Ledbetter DH,Martin CL

更新日期：2006-06-01 00:00:00

abstract：OBJECTIVE:Homozygous deletions/mutations of the SMN1 gene cause infantile spinal muscular atrophy (SMA). The presence of at least one SMN2 gene copy is required for normal embryogenesis. Lack of SMN protein results in degeneration of motor neurons, while extraneuronal manifestations have been regarded as a chance assoc...

journal_title：Journal of medical genetics

authors： Rudnik-Schöneborn S,Heller R,Berg C,Betzler C,Grimm T,Eggermann T,Eggermann K,Wirth R,Wirth B,Zerres K

更新日期：2008-10-01 00:00:00

abstract：:Neurofibromatosis and myotonic dystrophy have occurred in ten members of a nonconsanguineous family with a high degree of concordance. The expression of neurofibromatosis is peripheral, and the expression of myotonic dystrophy has produced at least moderately severe disability. Neither disease has appeared to alter th...

journal_title：Journal of medical genetics

authors： Ichikawa K,Crosley CJ,Culebras A,Weitkamp L

更新日期：1981-04-01 00:00:00