A family study of hidradenitis suppurativa.

abstract：:A 4 year old boy is reported with tyrosinase positive hypopigmentation, mental retardation, ataxia, and myopia. Radiological investigation showed occipital cerebral atrophy, coxa valga, and generalised osteoporosis. The skin histology and electron microscopy are reported and discussed. The clinical features are simila...

journal_title：Journal of medical genetics

authors： Patton MA,Baraitser M,Heagerty AH,Eady RA

更新日期：1987-02-01 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：:21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene. This 3.5 kb gene and a highly related CYP21P pseudogene reside on tandemly duplicated 30 kb segments of DNA in the class III HLA region, and the great majority of pathogenic mutations result fr...

journal_title：Journal of medical genetics

authors： Lako M,Ramsden S,Campbell RD,Strachan T

更新日期：1999-02-01 00:00:00

abstract：:A cohort of 33 people at risk for Huntington's disease (HD), applying for genetic testing, were tested with a battery of neuropsychological tests covering attentional, visuospatial, learning, memory, and planning functions. A psychiatric rating scale, SCL-90R, was also applied, mainly as a control, since cognitive dys...

journal_title：Journal of medical genetics

authors： Rosenberg NK,Sørensen SA,Christensen AL

更新日期：1995-08-01 00:00:00

abstract：BACKGROUND:The apolipoprotein E (ApoE) polymorphism has been well studied in the adult human population, in part because the e4 allele is a known risk factor for Alzheimer's disease. Little is known of the distribution of ApoE alleles in newborns, and their association with perinatal brain damage has not been investiga...

journal_title：Journal of medical genetics

authors： Becher JC,Keeling JW,McIntosh N,Wyatt B,Bell J

更新日期：2006-05-01 00:00:00

abstract：:By using the genetic linkage data between the facioscapulohumeral muscular dystrophy (FSHD) gene and 57 markers on various autosomes, we have constructed an exclusion map for this disorder. The maximum likelihood location of the FSHD gene and the percentage of the excluded areas on each chromosome are presented here. ...

journal_title：Journal of medical genetics

authors： Sarfarazi M,Upadhyaya M,Padberg G,Pericak-Vance M,Siddique T,Lucotte G,Lunt P

更新日期：1989-08-01 00:00:00

abstract：:Idiopathic torsion dystonia (ITD) has long been considered to be genetically determined, but the pattern of inheritance has been unclear. It has been suggested that inheritance may differ in Jews and non-Jews. In the present study, data gathered in a nationwide survey of ITD in Israel were analysed. Between 1969 and 1...

journal_title：Journal of medical genetics

authors： Zilber N,Korczyn AD,Kahana E,Fried K,Alter M

更新日期：1984-02-01 00:00:00

abstract：:A 10 1/2 year old female with skeletal abnormalities was referred for genetic consultation because of learning disabilities and a suggestion of 'Turner-like' stigmata. Cytogenetic analysis revealed a paracentric inversion of an X(q13.1q26.1) chromosome. ...

journal_title：Journal of medical genetics

authors： Herr HM,Horton SJ,Scott CI Jr

更新日期：1985-04-01 00:00:00

abstract：:In an attempt to relate the age at onset of Huntington's disease to parental factors, the effects of parental onset-age (Po) and the age of the transmitting parent at the birth of a subsequently affected child (Pc) have been examined in a sample of cases ascertained from Victorian kindreds. There was a significant pos...

journal_title：Journal of medical genetics

authors： Brackenridge CJ,Teltscher B

更新日期：1975-03-01 00:00:00

abstract：:Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumour predisposition syndrome caused by heterozygous germline mutations in the fumarate hydratase (FH) gene. The condition is characterised by predisposition to benign leiomyomas of the skin and the uterus, renal cell carcinoma (RCC), and uterine leiomyosar...

journal_title：Journal of medical genetics

authors： Lehtonen HJ,Kiuru M,Ylisaukko-Oja SK,Salovaara R,Herva R,Koivisto PA,Vierimaa O,Aittomäki K,Pukkala E,Launonen V,Aaltonen LA

更新日期：2006-06-01 00:00:00

abstract：BACKGROUND:Craniosynostosis (CRS) is a premature closure of calvarial sutures caused by gene mutation or environmental factors or interaction between the two. Only a small proportion of non-syndromic CRS (NSC) patients have a known genetic cause, and thus, it would be meaningful to search for a causative gene disruptio...

journal_title：Journal of medical genetics

authors： Kim J,Won HH,Kim Y,Choi JR,Yu N,Lee KA

更新日期：2015-10-01 00:00:00

abstract：:Two neonates with limb-body wall complex (LBWC) and complete absence of the external genitalia are presented. Our patients are the sixth and seventh cases of complete absence of the external genitalia recorded in English publications and the first two cases associated with LBWC. The incidence of complete absence of th...

journal_title：Journal of medical genetics

authors： Litwin A,Merlob P,Grunebaum M

更新日期：1988-05-01 00:00:00

abstract：:We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological studies showed a mixed axonal-demyelinating sensory-motor polyneuropathy with focal slowing of conduction velocities at the common sites of entrapment. Morphological studies on sural nerve biopsy from the proband showed ...

journal_title：Journal of medical genetics

authors： Sessa M,Nemni R,Quattrini A,Del Carro U,Wrabetz L,Canal N

更新日期：1997-11-01 00:00:00

abstract：:Two patients with partial monosomy of the short arm of chromosome 8 are described. Their clinical features were very similar. Comparison with previously reported patients confirms the existence of an 8p- syndrome. The importance of cytogenetic investigations in all infants with major congenital heart defect and facial...

journal_title：Journal of medical genetics

authors： Bröcker-Vriends AH,Mooij PD,van Bel F,Beverstock GC,van de Kamp JJ

更新日期：1986-04-01 00:00:00

abstract：BACKGROUND:Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. OBJECTIVES:To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic ...

journal_title：Journal of medical genetics

authors： Kutkowska-Kaźmierczak A,Rydzanicz M,Chlebowski A,Kłosowska-Kosicka K,Mika A,Gruchota J,Jurkiewicz E,Kowalewski C,Pollak A,Stradomska TJ,Kmieć T,Jakubowski R,Gasperowicz P,Walczak A,Śladowski D,Jankowska-Steifer E,Kornisze

更新日期：2018-06-01 00:00:00

abstract：:We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the co...

journal_title：Journal of medical genetics

authors： Bartsch O,Tympner KD,Schwinger E,Gorlin RJ

更新日期：1994-09-01 00:00:00

abstract：BACKGROUND:A marker chromosome is defined as a structurally abnormal chromosome that cannot be identified by routine cytogenetics. The risk for phenotypic abnormalities associated with a marker chromosome depends on several factors, including inheritance, mode of ascertainment, chromosomal origin, and the morphology, c...

journal_title：Journal of medical genetics

authors： Graf MD,Christ L,Mascarello JT,Mowrey P,Pettenati M,Stetten G,Storto P,Surti U,Van Dyke DL,Vance GH,Wolff D,Schwartz S

更新日期：2006-08-01 00:00:00

abstract：:Recently, there have been several molecular studies of trisomic fetuses and liveborns which have examined the parent and meiotic stage of origin of nondisjunction. However, little is known about the possible phenotypic effects of the origin of trisomy. For trisomic spontaneous abortions, no distinct phenotype has been...

journal_title：Journal of medical genetics

authors： Zaragoza MV,Millie E,Redline RW,Hassold TJ

更新日期：1998-11-01 00:00:00

abstract：:A panel of five multiallelic and highly informative dinucleotide CA repeat markers flanking the APC gene was used for presymptomatic diagnosis of familial adenomatous polyposis coli (FAP). Marker regions were amplified by PCR. DNA fragments were separated by electrophoresis in denaturing polyacrylamide gels and visual...

journal_title：Journal of medical genetics

authors： Eckert WA,Jung C,Wolff G

更新日期：1994-06-01 00:00:00

abstract：:To illustrate the variable clinical presentations and rates of progression in familial hypertrophic cardiomyopathy (FHC), phenotypes and genotypes were compared in three FHC families with different genetic defects. In the first family, the FHC abnormality was a protein truncating mutation (Gln969X) in the cardiac myos...

journal_title：Journal of medical genetics

authors： Yu B,French JA,Jeremy RW,French P,McTaggart DR,Nicholson MR,Semsarian C,Richmond DR,Trent RJ

更新日期：1998-03-01 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：:Germline mutations in highly penetrant autosomal dominant genes explain about 5% of all breast cancer, and heritable mutations in the BRCA1 breast and ovarian cancer susceptibility gene account for 2-3% of breast cancer in the general population. Nevertheless, the presence of such mutations is highly predictive of dis...

journal_title：Journal of medical genetics

authors： Chang-Claude J,Dong J,Schmidt S,Shayeghi M,Komitowski D,Becher H,Stratton MR,Royer-Pokora B

更新日期：1998-02-01 00:00:00

abstract：:After the publication of evidence of the existence of a DNA polymorphism closely linked to the gene for Huntington's disease, attitudes towards predictive testing for Huntington's disease were evaluated in Belgium in a group of persons who are at risk for the disease and in a smaller group of their partners. The perce...

journal_title：Journal of medical genetics

authors： Evers-Kiebooms G,Cassiman JJ,van den Berghe H

更新日期：1987-05-01 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:Posterior polar cataract is a clinically distinctive opacity located at the back of the lens. It is commonly acquired in age related cataract, and may infrequently occur in pedigrees with congenital cataract. To date, five loci for autosomal dominant congenital posterior polar cataract have been identified. ...

journal_title：Journal of medical genetics

authors： Pras E,Mahler O,Kumar V,Frydman M,Gefen N,Pras E,Hejtmancik JF

更新日期：2006-10-01 00:00:00

abstract：:The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classifie...

journal_title：Journal of medical genetics

authors： Passos-Bueno MR,Richard I,Vainzof M,Fougerousse F,Weissenbach J,Broux O,Cohen D,Akiyama J,Marie SK,Carvalho AA

更新日期：1993-05-01 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：:The clinical and haematological findings in 19 Liberians probably homozygous for beta thalassaemia are described. The haemoglobin patterns were similar with Hb F levels in the 30-50% range and a raised level of Hb A2 and, although the clinical severity varied widely, over half the cases were symptomless and even the m...

journal_title：Journal of medical genetics

authors： Willcox MC,Weatherall DJ,Clegg JB

更新日期：1975-06-01 00:00:00

abstract：:We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the fami...

journal_title：Journal of medical genetics

authors： MacDermot KD,Patton MA,Williams MJ,Winter RM

更新日期：1989-06-01 00:00:00

abstract：INTRODUCTION:Interpretation of results from mutation screening of tumour suppressor genes known to harbour high risk susceptibility mutations, such as APC, BRCA1, BRCA2, MLH1, MSH2, TP53, and PTEN, is becoming an increasingly important part of clinical practice. Interpretation of truncating mutations, gene rearrangemen...

journal_title：Journal of medical genetics

authors： Abkevich V,Zharkikh A,Deffenbaugh AM,Frank D,Chen Y,Shattuck D,Skolnick MH,Gutin A,Tavtigian SV

更新日期：2004-07-01 00:00:00