A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.

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：:A 5-month-old infant was examined because of minor multiple malformations. He was found to have a de novo blanced reciprocal translocation 46,XY,t(6;8(q13;q22). On follow-up at the age of 17 months his mental development was found to be within normal limits. ...

journal_title：Journal of medical genetics

authors： Fried K,Rosenblatt M,Mundel G

更新日期：1977-04-01 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:Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage analyses have clearly mapped a primary disease susceptibility locus to the major histocompatibility complex (MHC) region on chromosome 6p21. More recently, whole-genome association studies have identified two n...

journal_title：Journal of medical genetics

authors： Wolf N,Quaranta M,Prescott NJ,Allen M,Smith R,Burden AD,Worthington J,Griffiths CE,Mathew CG,Barker JN,Capon F,Trembath RC

更新日期：2008-02-01 00:00:00

abstract：:An apparently autosomal recessive syndrome of congenital renal tubular dysplasia and skull ossification defects is described in five infants from two separate, consanguineous, Pakistani Muslim kindreds. The clinical, pathological, and radiological features are similar to the phenotype associated with fetal exposure to...

journal_title：Journal of medical genetics

authors： Kumar D,Moss G,Primhak R,Coombs R

更新日期：1997-07-01 00:00:00

abstract：INTRODUCTION:Medullary cystic kidney disease 2 (MCKD2) and familial juvenile hyperuricaemic nephropathy (FJHN) are both autosomal dominant renal diseases characterised by juvenile onset of hyperuricaemia, gout, and progressive renal failure. Clinical features of both conditions vary in presence and severity. Often defi...

journal_title：Journal of medical genetics

authors： Hart TC,Gorry MC,Hart PS,Woodard AS,Shihabi Z,Sandhu J,Shirts B,Xu L,Zhu H,Barmada MM,Bleyer AJ

更新日期：2002-12-01 00:00:00

abstract：:Seven patients with congenital cutis laxa are presented. The associated features include developmental delay, joint laxity, wide anterior fontanelle, growth retardation, dental caries, and osteopenia. The heterogeneity and inheritance of congenital cutis laxa are discussed. This particular syndrome appears distinct an...

journal_title：Journal of medical genetics

authors： Patton MA,Tolmie J,Ruthnum P,Bamforth S,Baraitser M,Pembrey M

更新日期：1987-09-01 00:00:00

abstract：:The most useful markers for the prenatal diagnosis of myotonic dystrophy (DM) are APOC2 and CKM, both of which map proximal to DM. In order to produce other markers useful for DM, we have screened genomic DNA libraries constructed from cell line 20XP3542-1-4, which contains 20 to 30 Mb of human material including APOC...

journal_title：Journal of medical genetics

authors： Brook JD,Harley HG,Walsh KV,Rundle SA,Siciliano MJ,Harper PS,Shaw DJ

更新日期：1991-02-01 00:00:00

abstract：BACKGROUND:Non-syndromic isolated cleft lip with or without cleft palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors. It has been reported that maternal nutritional factors are likely to play a major role in development o...

journal_title：Journal of medical genetics

authors： Mostowska A,Hozyasz KK,Wojcicki P,Dziegelewska M,Jagodzinski PP

更新日期：2010-12-01 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：:Evidence is presented to support the recent suggestion that human neural tube closure is similar to that observed in mice, and comprises several regionally distinct closure sites rather than being a simple zipping up process. Seven subjects, each with more than one neural tube defect (NTD), are described. Comparative ...

journal_title：Journal of medical genetics

authors： Seller MJ

更新日期：1995-03-01 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：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 BglII polymorphism near the constant region of the T cell receptor beta chain (TCR c beta) has been investigated in normal controls, patients with cystic fibrosis (CF), and CF carriers. A significant increase was found in the frequency of the 10.0:9.2 kb heterozygous genotype in the CF carrier group (71%) as compa...

journal_title：Journal of medical genetics

authors： McMillan SA,Hill AJ,Graham CA,Nevin NC,Fay AC

更新日期：1989-07-01 00:00:00

abstract：BACKGROUND:The most commonly reported phenotypes described in patients with PTEN mutations are Bannayan-Riley-Ruvalcaba syndrome (BRRS), with childhood onset, macrocephaly, lipomas and developmental delay, and Cowden Syndrome (CS), an adult-onset condition recognised by mucocutaneous signs, with a risk of cancers, in p...

journal_title：Journal of medical genetics

authors： Lachlan KL,Lucassen AM,Bunyan D,Temple IK

更新日期：2007-09-01 00:00:00

abstract：BACKGROUND:Lynch syndrome, an autosomal-dominant disorder characterised by high colorectal and endometrial cancer risks, is caused by inherited mutations in DNA mismatch repair (MMR) genes. Mutations fully abrogating gene function are unambiguously disease causing. However, missense mutations often have unknown functio...

journal_title：Journal of medical genetics

authors： Wielders EA,Hettinger J,Dekker R,Kets CM,Ligtenberg MJ,Mensenkamp AR,van den Ouweland AM,Prins J,Wagner A,Dinjens WN,Dubbink HJ,van Hest LP,Menko F,Hogervorst F,Verhoef S,te Riele H

更新日期：2014-04-01 00:00:00

abstract：:Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. The natural history evolves in two phases, a severe failure to thrive during the first months contrasting with a normal weight gain ...

journal_title：Journal of medical genetics

authors： Philip N,Sigaudy S

更新日期：1998-03-01 00:00:00

abstract：:A patient with a typical Down syndrome (DS) phenotype and a normal karyotype was studied by FISH. Using painting probes, we found that the patient had partial trisomy of chromosome 21 owing to an unbalanced translocation t(15;21) (q26; q22.1) of paternal origin. To correlate genotype with phenotype as accurately as po...

journal_title：Journal of medical genetics

authors： Nadal M,Moreno S,Pritchard M,Preciado MA,Estivill X,Ramos-Arroyo MA

更新日期：1997-01-01 00:00:00

abstract：:A large body of data on segregating families is used to generate specific recurrence risks conditional on sex and birth order for the best-fitting model of polygenes plus maternal effect. The method is general for diseases of complex inheritance, and lies within the competence of any serious genetic clinic. The questi...

journal_title：Journal of medical genetics

authors： Lalouel JM,Morton NE,MacLean CJ,Jackson J

更新日期：1977-12-01 00:00:00

abstract：:Three sisters with gonadoblastoma and an 46,XY karyotype are presented. This observation suggests that heredity may play an important role in the genesis of the tumour. ...

journal_title：Journal of medical genetics

authors： Ionescu B,Maximilian C

更新日期：1977-06-01 00:00:00

abstract：BACKGROUND:Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative diseases involving pyramidal tracts dysfunction. The genes responsible for many types of AR-HSPs remain unknown. We attempted to identify the gene responsible for AR-HSP with optic atrophy and ne...

journal_title：Journal of medical genetics

authors： Shimazaki H,Takiyama Y,Ishiura H,Sakai C,Matsushima Y,Hatakeyama H,Honda J,Sakoe K,Naoi T,Namekawa M,Fukuda Y,Takahashi Y,Goto J,Tsuji S,Goto Y,Nakano I,Japan Spastic Paraplegia Research Consortium (JASPAC).

更新日期：2012-12-01 00:00:00

abstract：:A large tuberous sclerosis multigenerational family segregating with markers on chromosome 9q from the TSC1 region was studied with a new highly polymorphic marker (designated A6) from the region. A critical affected person showed recombination with the marker, eliminating approximately 100 kilobases from the telomeri...

journal_title：Journal of medical genetics

authors： Au KS,Murrell J,Buckler A,Blanton SH,Northrup H

更新日期：1996-07-01 00:00:00

abstract：BACKGROUND:Because the mitochondrial respiratory chain (RC) is ubiquitous, its deficiency can theoretically give rise to any symptom in any organ or tissue at any age with any mode of inheritance, owing to the twofold genetic origin of respiratory enzyme machinery, that is, nuclear and mitochondrial. Not all respirator...

journal_title：Journal of medical genetics

authors： de Beaurepaire I,Grévent D,Rio M,Desguerre I,de Lonlay P,Levy R,Dangouloff-Ros V,Bonnefont JP,Barcia G,Funalot B,Besmond C,Metodiev MD,Ruzzenente B,Assouline Z,Munnich A,Rötig A,Boddaert N

更新日期：2018-06-01 00:00:00

abstract：:Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known cra...

journal_title：Journal of medical genetics

authors： Reardon W,van Herwerden L,Rose C,Jones B,Malcolm S,Winter RM

更新日期：1994-03-01 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：:We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Impo...

journal_title：Journal of medical genetics

authors： Ryan AK,Bartlett K,Clayton P,Eaton S,Mills L,Donnai D,Winter RM,Burn J

更新日期：1998-07-01 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：: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：:There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with...

journal_title：Journal of medical genetics

authors： Farrar GJ,Geraghty MT,Moloney JM,McConnell DJ,Humphries P

更新日期：1988-04-01 00:00:00

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