A girl with the Weaver syndrome.

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

authors： Read AP,Kerzin-Storrar L,Mountford RC,Elles RG,Harris R

更新日期：1986-12-01 00:00:00

abstract：BACKGROUND:Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and c...

journal_title：Journal of medical genetics

authors： Molin AM,Andrieux J,Koolen DA,Malan V,Carella M,Colleaux L,Cormier-Daire V,David A,de Leeuw N,Delobel B,Duban-Bedu B,Fischetto R,Flinter F,Kjaergaard S,Kok F,Krepischi AC,Le Caignec C,Ogilvie CM,Maia S,Mathieu-Drama

更新日期：2012-02-01 00:00:00

abstract：:We report an 18 year old female with a de novo ring chromosome 3 found after investigation for short stature. Her karyotype was interpreted as 46,XX, r(3)(p26.2q29). Her phenotype is milder than previously reported cases and illustrates the mild end of the spectrum of the ring chromosome 3 phenotype. ...

journal_title：Journal of medical genetics

authors： McKinley M,Colley A,Sinclair P,Donnai D,Andrews T

更新日期：1991-08-01 00:00:00

abstract：:We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been...

journal_title：Journal of medical genetics

authors： Christodoulou J,McDougall PN,Sheffield LJ

更新日期：1989-09-01 00:00:00

abstract：BACKGROUND:Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients ...

journal_title：Journal of medical genetics

authors： Antonio Casado J,Callén E,Jacome A,Río P,Castella M,Lobitz S,Ferro T,Muñoz A,Sevilla J,Cantalejo A,Cela E,Cervera J,Sánchez-Calero J,Badell I,Estella J,Dasí A,Olivé T,José Ortega J,Rodriguez-Villa A,Tapia M,Moliné

更新日期：2007-04-01 00:00:00

abstract：:We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS). He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features. The history ...

journal_title：Journal of medical genetics

authors： Hordijk R,Wierenga H,Scheffer H,Leegte B,Hofstra RM,Stolte-Dijkstra I

更新日期：1999-10-01 00:00:00

abstract：:A variant chromosome 4 with a large G positive heterochromatic block is described and discussed in relation to chromosome 4 heteromorphisms observed with other banding techniques. The extra heterochromatin is C positive and fluoresces brilliantly with Q banding, but differs from Yqh with some methods of staining. ...

journal_title：Journal of medical genetics

authors： Docherty Z,Bowser-Riley SM

更新日期：1984-12-01 00:00:00

abstract：BACKGROUND:The genetic complexity of infantile cardiomyopathies is remarkable, and the importance of mitochondrial translation defects as a causative factor is only starting to be recognised. We investigated the genetic basis for infantile onset recessive hypertrophic cardiomyopathy in two siblings. METHODS AND RESULT...

journal_title：Journal of medical genetics

authors： Carroll CJ,Isohanni P,Pöyhönen R,Euro L,Richter U,Brilhante V,Götz A,Lahtinen T,Paetau A,Pihko H,Battersby BJ,Tyynismaa H,Suomalainen A

更新日期：2013-03-01 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：BACKGROUND:The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). However, the prevalence of ASD in WBS is 6-10 times higher than in the general population. We hav...

journal_title：Journal of medical genetics

authors： Codina-Sola M,Costa-Roger M,Pérez-García D,Flores R,Palacios-Verdú MG,Cusco I,Pérez-Jurado LA

更新日期：2019-12-01 00:00:00

abstract：:A family is recorded in which Duchenne's muscular dystrophy and protan colour blindness are segregating. Of 4 members of the second generation at least one is a recombinant. The lod scores have been calculated and added to those already published. ...

journal_title：Journal of medical genetics

authors： Greig DN

更新日期：1977-04-01 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

authors： Scott DA,Hernandez-Garcia A,Azamian MS,Jordan VK,Kim BJ,Starkovich M,Zhang J,Wong LJ,Darilek SA,Breman AM,Yang Y,Lupski JR,Jiwani AK,Das B,Lalani SR,Iglesias AD,Rosenfeld JA,Xia F

更新日期：2017-01-01 00:00:00

abstract：:A unique connective tissue disorder characterised by the triad of dentinogenesis imperfecta, blue sclerae, and multiple wormian bones has been identified in 20 members of three generations of a large kindred of mixed ancestry in South Africa. The skeletons of affected subjects were moderately osteoporotic but, apart f...

journal_title：Journal of medical genetics

authors： Beighton P

更新日期：1981-04-01 00:00:00

abstract：:We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed. ...

journal_title：Journal of medical genetics

authors： Telvi L,Pinard JM,Ion R,Sinet PM,Nicole A,Feingold J,Dulac O,Pompidou A,Ponsot G

更新日期：1992-10-01 00:00:00

abstract：:A family study is presented in which the father of a girl with severe cystic fibrosis (CF) was also found to have CF but was mildly affected. He was diagnosed with three positive sweat tests including one after suppression with fludrocortisone. Genetic analysis showed that he is a compound heterozygote with the delta ...

journal_title：Journal of medical genetics

authors： Barreto C,Pinto LM,Duarte A,Lavinha J,Ramsay M

更新日期：1991-06-01 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

authors： Smith GW,Graham CA,Nevin J,Nevin NC

更新日期：1995-01-01 00:00:00

abstract：:Pysiological tremor was measured in 14 pairs of monozygotic twins, 14 pairs of dizygotic twins, and 14 pairs of control subjects matched for age and sex. Postural finger tremor was measured in each pair using a sub-miniature accelerometer and subjecting the amplified signals to power spectral analysis. Significant gen...

journal_title：Journal of medical genetics

authors： Tyrer PJ,Kasriel J

更新日期：1975-06-01 00:00:00

abstract：BACKGROUND:Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), a disorder characterised by the development of hamartomas or benign tumours in various organs as well as the variable presence of epilepsy, intellectual disability (ID) and autism. TSC1, TSC2 and the recently described protein TBC1D7 form ...

journal_title：Journal of medical genetics

authors： Capo-Chichi JM,Tcherkezian J,Hamdan FF,Décarie JC,Dobrzeniecka S,Patry L,Nadon MA,Mucha BE,Major P,Shevell M,Bencheikh BO,Joober R,Samuels ME,Rouleau GA,Roux PP,Michaud JL

更新日期：2013-11-01 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

authors： Putoux A,Nampoothiri S,Laurent N,Cormier-Daire V,Beales PL,Schinzel A,Bartholdi D,Alby C,Thomas S,Elkhartoufi N,Ichkou A,Litzler J,Munnich A,Encha-Razavi F,Kannan R,Faivre L,Boddaert N,Rauch A,Vekemans M,Attié-Bitac

更新日期：2012-11-01 00:00:00

abstract：:Human chromosome 9 with a pericentric inversion involving the qh region is considered normal. It has probably evolved through breakage and reunion and is retained through mendelian inheritance without any apparent phenotypic consequences. Fluorescent in situ hybridisation (FISH) technique using alpha, beta, and satell...

journal_title：Journal of medical genetics

authors： Ramesh KH,Verma RS

更新日期：1996-05-01 00:00:00

abstract：:We present an extended family with Li-Fraumeni syndrome characterised by gastric and breast carcinoma, glioma, sarcoma, and leukaemia. This family showed strong evidence of linkage to TP53, and three of four tumours analysed showed loss of the wild type allele. A codon 175 missense mutation was identified in exon 5 in...

journal_title：Journal of medical genetics

authors： Varley JM,McGown G,Thorncroft M,Tricker KJ,Teare MD,Santibanez-Koref MF,Martin J,Birch JM,Evans DG

更新日期：1995-12-01 00:00:00

abstract：:Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLX...

journal_title：Journal of medical genetics

authors： Lynch SA,Wang Y,Strachan T,Burn J,Lindsay S

更新日期：2000-08-01 00:00:00

abstract：:Congenital heart defects are a major congenital abnormality and are assuming increasing importance. A study was undertaken to estimate the incidence of congenital heart defects in Northern Ireland over a five year period (1974-1978), to determine the age at diagnosis and to assess the risk of recurrence in sibs. An in...

journal_title：Journal of medical genetics

authors： Hanna EJ,Nevin NC,Nelson J

更新日期：1994-11-01 00:00:00

abstract：:A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malformations (Fallot's t...

journal_title：Journal of medical genetics

authors： Valerio D,Lavorgna F,Scalona M,Conte A

更新日期：1993-08-01 00:00:00

abstract：:Rubinstein-Taybi syndrome (RTS) is a well delineated multiple congenital anomaly syndrome characterised by mental retardation, broad thumbs and toes, short stature, and specific facial features. The recent localisation of the disorder to 16p13.3 and subsequent identification of a submicroscopic deletion of this region...

journal_title：Journal of medical genetics

authors： Wallerstein R,Anderson CE,Hay B,Gupta P,Gibas L,Ansari K,Cowchock FS,Weinblatt V,Reid C,Levitas A,Jackson L

更新日期：1997-03-01 00:00:00

abstract：:Recent epidemiological interest has focused on separation of neural tube defects (NTD) into subgroups which may differ pathogenetically and aetiologically, for example, 'upper' and 'lower' spina bifida. In order to validate the use of pathologists' lesion descriptions by epidemiologists and others, a postal survey of ...

journal_title：Journal of medical genetics

authors： Dolk H,Seller MJ

更新日期：1993-11-01 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：:The features of a child with osteogenesis imperfecta type III (OI III) resulting from the heterozygous substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen were studied. He was born at term with the clinical features of severe OI, including deep grey-blue sclerae. He had severe ost...

journal_title：Journal of medical genetics

authors： Cole WG,Lam TP

更新日期：1996-03-01 00:00:00

abstract：BACKGROUND:Deletions of the HOXC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. OBJECTIVE:To report chromosome 12q13.13 microdeletions ranging from 13 to 175 kb and involving the 5' HOXC genes in four families, segregating congenital lower limb malformations, including cl...

journal_title：Journal of medical genetics

authors： Alvarado DM,McCall K,Hecht JT,Dobbs MB,Gurnett CA

更新日期：2016-04-01 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